bluuebunny/crossref_metadata_2025 huggingface dataset:
Trisomy 6qter
Authors: Turleau C. , Grouchy J. de
Published: July 2010

A previously reported patient with trisomy for the distal part of 6q was shown by R‐banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp‐shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
Huntington's Chorea in South Wales A genetic and epidemiological study
Authors: Walker D. A. , Harper P. S. , Wells C. E. C. , Tyler Audrey , Davies Kathleen , Newcombe R. G.
Published: July 2010

A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study has shown no patients who have been omitted apart from those originating outside the area and those new cases with no living affected relatives. Analysis of migration patterns suggests that around 20 % of cases in each generation arise from outside Glamorgan and Gwent and that around 12 % of first‐degree relatives of indigenous cases have left the area. The survey has formed the initial phase of a long‐term prospective study of the disease involving systematic genetic counselling of all high‐risk individuals and regular surveillance to monitor possible trends in future prevalence.
Fragile sites in human chromosomes I The effect of methionine on the Xq fragile site
Authors: Howard‐Peebles Patricia N. , Pryor Johnny C.
Published: July 2010

The Xq fragile site found in males having non‐specific X‐linked mental retardation was studied by varying the chemical and physical parameters of leukocyte cultures. Methionine was shown to be required for marker expression in both medium 199 and MEM. Banding studies indicated that methionine does not function as a stabilizing factor for the fragile site on Xq.
Familial 5/14 translocation with triple X and 47,XY + 14q‐
Authors: Lancet M. , Sindel L. , Segal I.
Published: July 2010

A family with 5/14 balanced translocation was investigated. The father and both his daughters had the same balanced translocation. One of the daughters had four spontaneous abortions, the last one with a karyotype of 47,XY + 14q –. The other daughter had two children, one of them a normal 46,XX girl, the other with the karyotype 47,XXX;t5/14.
Polymorphism in chromosome 4
Authors: Bardhan S. , Singh D. N. , Davis K.
Published: July 2010

Chromosomal analyses were performed on 302 individuals, using QFQ banding techniques to determine the occurrence of heteromorphism of chromosome 4. Two types of hetero‐morphism were observed, one showing an intensely fluorescent band in the centromere region and the other an intensely fluorescent band in the proximal area of the short arm. No one individual possessed both types of heteromorphism. A higher frequency of chromosome 4 heteromorphism was found in patients with schizophrenia, mental retardation, hyperactivity, developmental delay and speech impediments than in normal individuals.
Follow‐up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974
Authors: Nielsen J. , Krag‐Olsen B.
Published: July 2010

A follow‐up study of 32 unselected children with translocations has been made from 6 to 11 years after the chromosome examination of these children at birth. The physical and mental development of the five children with de novo translocations was very similar to that of the children with inherited translocations, and we found no indication of any association between the autosomal reciprocal translocations or the Robertsonian translocations and physical and mental development. There was an increased risk for offspring with unbalanced or aneuploid chromosome abnormalities in 2 of the 30 families, and prenatal examination is most probably indicated in carriers of any type of translocation. Further studies of larger groups of unselected persons with translocations are, however, needed before any definite risk figures can be calculated for the different translocations.
Prenatal diagnosis of Krabbe disease
Authors: Vanier Marie T. , Svennerholm Lars , Månsson Jan‐Eric , Hakansson Gunilla , Bou André , Lindsten Jan
Published: July 2010

Krabbe disease was diagnosed prenatally in Göteborg (Sweden) and Lyon (France) by assaying the cerebroside‐β‐galactosidase activity with galactosylceramides and lactosyl‐ceramides as substrates in cultivated amniotic fluid cells. Altogether, 48 pregnancies at risk were monitored between 1972 and 1980. Ten pregnancies at risk were terminated because of a predicted affection of the fetus. Biochemical examination of material available from 7 of the 10 abortuses confirmed the diagnoses. All the remaining 36 pregnancies ended in the birth of a healthy infant. The study showed that prenatal diagnosis of Krabbe disease is difficult because of the relatively high residual cerebroside‐β‐galactosidase activity in some affected fetuses. Except for the large biological variation, the enzyme activity was sensitive to variation in cultivation conditions and differed strikingly between morphologically different cell types. These two factors were controlled by including control cell samples cultivated under identical conditions and by relating the cerebroside‐β‐galactosidase activity to that of two marker enzymes. The biological variation was investigated further by measuring the cerebroside‐β‐galactosidase activity in cultured skin fibroblasts from infants with Krabbe disease and from their parents. Results obtained in 18 unrelated patients with Krabbe disease, 26 obligate heterozygotes and 63 controls showed a wide range of variation in enzyme activity in the controls, a large overlap between the controls and obligate heterozygotes, and a high residual activity in some patients. Nevertheless, a high residual activity in a patient was combined with a relatively high enzyme activity in the two parents. In the light of the above findings and deliberations, it appears warranted to conclude that laboratories with experienced personnel can make a reliable prenatal diagnosis of Krabbe disease and that the examination should be offered to all known couples at risk.
Genetics of the low density lipoprotein receptor:
Authors: Maartmann‐Moe Kjell , Berg‐Johnsen Pal
Published: July 2010

Six indices of low density lipoprotein (LDL) receptor activity were assayed in cultured fibroblasts from seven subjects with familial hypercholesterolemia (HC) and six subjects without HC (non‐HCs). Four non‐HCs, three HC heterozygotes and one HC homozygous proband belonged to one kindred (kindred A). The proband's fibroblast 125I‐LDL processing values fell within or were slightly above the range defined by fibroblasts from three “receptor‐negative” HC homozygotes. Thus, the plasma membrane receptor defect in this kindred is probably of the “receptor‐negative” category.

LDL receptor‐dependent 125I‐LDL processing was about twice as high in fibroblasts from non‐HCs as in those from HC heterozygotes belonging to kindred A. The segregation pattern of LDL receptor activity in this kindred was compatible with control by a single gene locus. 12SI‐LDL processing values from non‐HCs, HC heterozygotes and HC homozygotes differed significantly from one another, but non‐HCs and HC heterozygotes showed some overlap. LDL receptor‐dependent 125I‐LDL association (plasma membrane binding plus intracellular accumulation) data for 6 HC heterozygous and 13 non‐HC fibroblast strains clustered into two and into three groups, respectively. Median 125I‐LDL association levels in these groups appeared to be in agreement with the hypothesis that two different genotypes in HC heterozygotes and three in non‐HCs determined LDL receptor activity. These findings suggest the possibility that 125I‐LDL processing studies may reveal “normal” alleles at the LDL receptor locus.
Genetics of the low density lipoprotein receptor:
Authors: Magnus Per , Maartmann‐Moe Kjell , Golden Wendy , Nance Walter E. , Berg Kåre
Published: July 2010

Fibroblast low density lipoprotein (LDL) plasma membrane receptor activity, measured as 125I‐LDL association (plasma membrane binding plus intracellular accumulation) and degradation was determined in cell strains from 14 monozygotic (MZ) and 21 like‐sexed dizygotic (DZ) normolipidemic twin pairs. The twins were between 57 and 62 years old and had lived apart for an average of 38 years (range 0–60). The intrapair differences were significantly smaller in MZ than in DZ twin pairs in fibroblast 125I‐LDL association as well as degradation assays (P < 0.05). These findings suggest a genetic influence on normal variation in LDL receptor activity in vitro. In two MZ pairs discordant for psoriasis, the psoriatic twin had markedly lower LDL receptor activity than the cotwin.
Carrier detection in Sanfilippo syndrome type B: report of six families
Authors: Vance J. M. , Conneally P. M. , Wappner R. S. , Yu P. L. , Brandt I. K. , Pericak‐Vance M. A.
Published: July 2010

Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum α‐N‐acetyl‐D‐glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.
Complex segregation analysis of the Lp(a)/pre‐ß1‐lipoprotein trait
Authors: Iselius L. , Dahlén G. , Faire U. DE , Lundman T.
Published: July 2010

Complex segregation analysis of the LpCaypre‐β1‐lipoprotein trait in 229 nuclear families gave strong evidence for a major gene with complete dominance for pre‐β+and gene frequency q = 0.10. The penetrance is 0.917. There was no evidence for either polygenic heritability or environment common to sibs.
Multiple forms of membrane‐bound β‐glucosidase in Gaucher's disease
Authors: YAQOOB MOHAMMED , CARROLL MARK
Published: July 2010

Two forms of membrane‐bound β‐glucosidase in the spleen of normal individuals were distinguished by their thermostability properties. The heat‐labile form A predominates; it catalyzes the hydrolysis of the natural substrate, glucosylceramide, and is activated by the detergent, sodium taurocholate. The minor heat‐stable form B is inactive against glucosylceramide and is inhibited by taurocholate. The activity of form A increases from childhood to adult life, as does the activity of the soluble β‐glucosidase and of glucosylceramide β‐glucosidase. In the spleen of nine patients with different types of Gaucher's disease the residual membrane‐bound β‐glucosidase was predominantly heat‐stable and inhibited by taurocholate. There was no clear correlation between the properties of the residual enzyme in the different types of the disorder and their respective clinical severity. The results are discussed in relation to the biochemical pathogenesis and the enzymatic diagnosis of Gaucher's disease.
Partial chromosome 4 trisomy
Authors: Qazi Qutub H. , Madahar Cecily , Kanchanapoomi R. , Price Winston , Chua Albina , Beller Eva
Published: July 2010

A black female infant with multiple congenital anomalies was found to have partial trisomy of chromosome 4, which included all of the short arm and the proximal 20% of the long arm. The chromosomal aberration, to our knowledge, has not been previously reported. Clinically, the infant had a good degree of resemblance to cases of 4p trisomy.
Partial trisomy 7p in two families resulting from different balanced translocations
Authors: Moore C. M. , Pfeiffer R. A. , Craig‐Holmes A. P. , Scott C. I. , Meisel‐Stosiek M.
Published: July 2010

Two families are described in which a balanced translocation producing partial trisomy 7p is segregating. Comparison is made of the phenotype produced by this aneuploidy with other cases in the literature and contrasted with that produced by partial deletion of 7p.
Terminal deletion(4)(q33) in a male infant
Authors: Stamberg Judith , Jabs Ethylin Wang , Elias Ellen
Published: July 2010

The deletion of 4q31→qter is associated with a recognizable “4q‐ syndrome”. It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q‐ syndrome. We present the second case, the first male, with the latter deletion and compare his clinical features to those of other 4q‐ patients.
Serum cholinesterase in the mothers of neural tube defect progeny
Authors: Lawrie S. S. , Thomson I.
Published: July 2010

Human Serum Cholinesterase activity and polymorphism at its two gene loci, CHE1 and CHE2, were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non‐pregnant control group. Variants at the CHE1 locus were identified by dibucaine, fluoride and R02 0683 inhibition. The CHE2 phenotype was demonstrated by DISC polyacrylamide gel electrophoresis. Total HSChE activity in the pregnant groups was slightly less than in the control group but there was no difference in activity between the affected and the normal pregnancies. Three variants were identified. All were found in the non‐affected pregnant group. One variant at CHE1 was identified, an I phenotype, and two C5+ phenotypes, the CHE2 variant. No obvious relationships were found between HSChE activity or a particular genetic variant and NTD progeny.
An unusual connective tissue disease in mother and son: A “new” type of Ehlers‐Danlos syndrome?
Authors: Friedman J. M. , Harrod M. J. E.
Published: July 2010

A 23‐year‐old woman and her 2 1/2‐year‐old son both had large hernias, positional foot deformities, abnormal thoracic shape, asthma, and severe eczematoid dermatitis. Their facial appearance was quite similar and included asymmetry with prominent nasal bridge and small jaw. In addition, the mother had severe thoracolumbar kyphoscolosis and “cigarette paper” scars over her legs. She died after rupture of a thoracic aortic aneurysm and was found on postmortem examination to have cystic medionecrosis of the aorta and myxomatous degeneration and elongation of the mitral and tricuspid valves. The family history was otherwise negative; there was no consanguinity. The connective tissue disease in this mother and her son appears to be a previously unrecognized dominantly‐inherited disorder with some similarity to classical Ehlers‐Danlos syndrome.
Fragile site X chromosomes and X‐linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study
Authors: Blomquist H. K:son , Gustavson K.‐H. , Holmgren G. , Nordenson I. , Sweins A.
Published: July 2010

In an unselected series of 96 severely mentally retarded boys (IQ < 50) born 1959–70 in a northern Swedish county, six had a fragile site on the distal end of the X chromosome (FraXq 28). The prevalence of the fragile X syndrome in severely retarded boys was 6 %. Next to trisomy 21, this fragile X syndrome appears to be the most common single cause of severe mental retardation in boys.
Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model
Authors: Hecht Frederick , Hecht Barbara Kaiser , Austin William J.
Published: July 2010

Incontinentia pigmenti (IP) is an X‐linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother‐to‐son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.
Serum reserve cholesterol binding capacity (SRCBC) in familial hypercholesterolemia
Authors: Børresen A.‐L. , Maartmann‐Moe K. , Berg K.
Published: July 2010

Serum reserve cholesterol binding capacity (SRCBC) was studied in 28 members of five kindreds with familial hypercholesterolemia (HC). A significantly lower SRCBC was found in family members heterozygous or homozygous for HC than in their healthy relatives. Hypothetically, the low SRCBC in HC patients could contribute to their propensity to develop premature atherosclerosis.
Supernumerary chromosomes in six patients
Authors: Yip Moh‐Ying , Mark Joachim , Hultén Maj
Published: July 2010

Cytogenetic investigations on five constitutional supernumeraries are presented and correlated to the clinical picture of carriers. Two severely mentally retarded, unrelated patients had similar but not identical inv dup (15) chromosomes and one mildly retarded patient had a small centric fragment, probably a ring chromosome; one infertile man, and a normal father and daughter had double NOR‐stained metacentric markers, interpreted to be entirely heterochromatic.
Impaired degradation of chondroitin sulfate in GM2‐gangliosidosis
Authors: Yutaka Tohru , Kato Tomochika , Okada Shintaro , Yabuuci Hyakuji
Published: July 2010

We have prepared a new radiolabeled substrate, derived from chondroitin 6‐sulfate oligosaccharide, for the assaying of chondroitin sulfate degradation by beta‐N‐acetylgalactosaminidase. Using this substrate, we found a striking deficiency of beta‐N‐acetylgalactosaminidase activity in the cultured skin fibroblasts of patients with Sandhoff disease and Tay‐Sachs disease. DEAE‐cellulose chromatography at pH 6.0 revealed that both isoenzymes A and B of beta‐N‐acetylgalactosaminidases from normal human liver participated in the catabolism of chondroitin 6‐sulfate. However, there were major differences in substrate specificity between isoenzyme A and isoenzyme B.
Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p
Authors: Larson Linda M. , Bruce A. Wayne , Saumur Jean H. , Wasdahl Walter A.
Published: July 2010

Quantitative studies of erythrocyte acid phosphatase (ACPI) and soluble malate dehydrogenase (MDHl), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of four patients in an attempt to demonstrate a gene dosage effect. The patients inherited the unbalanced form of a familial reciprocal translocation, t(2;10)(p24;q26), and had partial duplication 2p. Parents of all patients and siblings of some were included in the study. All patients had increased levels of ACPl corresponding to the presence of three structural genes. Levels of MDHl were not increased. Evidence shows that the ACPl gene is in the region 2p24–2pter and that MDH is not.
Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72‐year‐old patient with a partial deficiency of sphingomyelinase
Authors: Poulos A. , Beckman K. , Ellis D. H. , Pollard A. C.
Published: July 2010

A 72‐year‐old patient with marked splenomegaly and low sphingomyelinase (6% of lowest control value) in peripheral blood leukocytes is described. Much higher but variable residual sphingomyelinase activity was observed in cultured skin fibroblasts (40–67% of lowest control value); reduced activity was also found in a liver biopsy sample. Excess storage of sphingomyelin was not observed in a liver biospy; instead, a lipid tentatively identified as bis(monoacylglycero1) phosphate was present in amounts at least 20 times greater than in age‐matched control livers. The biochemical relationship of this patient to patients with sphingomyelin storage disease (Niemann‐Pick disease) and phospholipidosis Type II is discussed.
The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark
Authors: Rasmussen K. , Nielsen J. , Dahl G.
Published: July 2010

A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in 1905 cases; 359 (18.8%) of these had a chromosome anomaly: 281 (14.7%) Down's syndrome, 45 (2.4%) autosomal anomaly other than Down's, and 33(1.8%) sex chromosome anomaly. The frequency of chromosome aberrations in relation to the whole group was higher compared with similar surveys, which leads to the conclusion that the total number of mentally retarded persons living within a limited area is determined by many factors. This means that a comparison between frequencies of abnormal chromosomes in an unselected group of mentally retarded persons is only relevant when related to the whole population living in the investigation area.
Prader‐Willi syndrome: Are there population differences?
Authors: Butler Merlin G. , Weaver David D. , Meaney F. John
Published: July 2010

A 15 1/2‐year‐old black female with features consistent with the Prader‐Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader‐Willi syndrome. There is an apparent paucity of hlacks reported with this condition. Whether this difference is a true difference or represents under‐reporting is not known. We urge reporting of individuals representing other racial groups with this disorder and suggest population studies to determine the incidence as well as the true population difference in the Prader‐Willi syndrome.
Congenital deafness and hypogonadism: a new X‐linked recessive disorder
Authors: Myhre S. A. , Ruvalcaba R. H. A. , Kelley V. C.
Published: July 2010

Six males in two pedigrees presented a severe congenital mixed hearing loss and primary hypogonadism. Antisocial and immature behavior was evident in all the affected males. The mode of inheritance in this new disorder is suggestive of X‐linked recessive transmission.
Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation
Authors: Pauli Richard M. , Kirkpatrick Susan J. , Meisner Lorraine F. , Mijanovich James R. , Spritz Richard A.
Published: July 2010

Two cousins with trisomy for a part of the long arm of chromosome 10 and monosomy for the distal portion of the short arm of chromosome 4 are reported. These infants had severe, neonatally lethal, multiple malformations. Certain of these malformations ‐ including severe lower limb reductions, marked ophthalmologic anomalies and certain craniofacial features ‐ are inconsistent with either a simple additive effect of the two component chromosomal anomalies, or chromosomal “epistasis” that would result in observing the phenotypic effect of only one of the chromosomal aberrations. Rather a synergistic effect of these two karyotypic anomalies has resulted in unique phenotypic features.
A controlled retrospective follow‐up study of the impact of genetic counseling on parental reproduction following the birth of a Down syndrome child
Authors: Oetting Lori A. , Steele Mark W.
Published: July 2010

Twenty‐three couples who had received genetic counseling after the birth of a Down Syndrome child (DSC) were closely match‐paired by race, religion, maternal age, paternal occupation, parental education and sex sibship order of the DSC with 23 non‐counseled couples who also had a DSC. When evaluated at least 11/2 years after the birth of the DSC or the genetic counseling, there were no significant differences between counseled and non‐counseled couples in knowledge of general genetics or recurrent risks for Down Syndrome, initiation of subsequent pregnancies, or utilization of prenatal diagnosis. Knowledge of general genetics and recurrent risks for Down Syndrome among our post‐counselees was poorer than that of two published immediate follow‐up reports. Although 18 of 46 couples initiated at least one more pregnancy after the birth of their DSC, only three couples (2 counseled; 1 non‐counseled) utilized prenatal diagnosis by amniocentesis.
Alpha‐1‐antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parents
Authors: Bufton Linda , Magenis R. Ellen , Lovrien Everett W.
Published: July 2010

Alpha‐1‐antitrypsin was examined in the serum from 121 Down's syndrome families. Variant phenotypes (non‐M) were increased in frequency in parents (15 %) and in their affected children (19 %) compared to frequencies of 8–10 % in two control groups (p < 0.001). Variant parental Pi phenotypes were found in 19 mothers and 10 fathers of Down's patients. Parental origin of the extra chromosome 21 was known in 34 families and was maternal in 26 instances. In seven families where parental origin of the extra chromosome was known, a variant Pi phenotype was inherited from the parent contributing the extra chromosome in four families and from the parent not contributing the extra chromosome in three families, indicating that there is no simple correlation between the Pi variant and nondisjunction. The increase in Pi variants in Down's syndrome families was independent of maternal age.
Fetal mortality in oral cleft families(IV): the “doubling effect”
Authors: Dronamraju Krishna R. , Bixler David
Published: July 2010

Fetal mortality data from Lancaster, Penn., Chicago, 111. and Minneapolis, Minn, are presented which support the authors' earlier findings in Indiana and Montreal that a positive relationship exists between the degree of liability to malformation and the incidence of fetal deaths in probands' sibships. Altogether, the study involved 189 CL sibships, 690 CLP sibships, and 3,416 pregnancies. On the basis of these data, which are derived from families of several different backgrounds of European ancestry, it is generalized that, as we proceed from CL sibships to CLP sibships, there is a doubling effect on fetal mortality. The consistency of this finding in several population samples is impressive. The implications of this observation are discussed with reference to genetic counseling.
Oromandibular limb hypogenesis/Hanhart's syndrome: possible drug influence on the malformation
Authors: Bökesoy I. , Aksüyek Ç. , Deniz E.
Published: July 2010

Oromandibular limb hypogenesis/Hanhart's syndrome in a female infant with an antenatal history of meclizine hydrochloride usage during gestation is reported. The genetics of the syndrome are discussed and the possibility of the drug's influence on the malformation is suggested.
Trisomy 10p produced by recombination involving complex paternal translocation between chromosomes 1 and 10
Authors: Herva Riitta , Korhonen Sirpa , Haapala Kyllikki , Timonen Eija
Published: July 2010

A complex and unique, apparently balanced translocation involving No. 1 long arm and No. 10 short and long arm, segregated in a family and produced an unbalanced progeny with recombination of t(10) translocation chromosome during paternal meiosis.
Chromosome aneuploidy in Alzheimer's disease
Authors: Smith Arabella , Broe G. A. , Williamson Michael
Published: July 2010

We present cytogenetic findings in 9 patients with Alzheimer's disease (AD) and 35 normal age matched controls. The study was undertaken due to reports of increased aneuploidy in individuals with AD. Coded peripheral blood chromosome preparations were evaluated for aneuploidy; there were 4.5% hypomodal cells in AD patients compared with 5.5% in controls. There were no hypermodal cells in the AD group and only 0.7% among the controls. Statistical analyses of the results did not show any differences between AD patients and controls in these data. There was a statistically significant increase in the loss of C group chromosomes in the old controls which we attribute to ageing.
Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis
Authors: Schmid M. , Schmidtke J. , Kruse K. , Tolksdorf M.
Published: July 2010

A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y‐specific DNA sequences by means of Hae III restriction endonuclease analysis. Any connection between the structural chromosomal abnormalities and the symptoms of the infant is highly improbable.
Aberrant twinning (diprosopus) associated with anencephaly
Authors: Moerman Ph. , Fryns J. P. , Goddeeris P. , Lauweryns J. M. , Assche A. Van
Published: July 2010

A case of Monocephalus diprosopus, associated with craniorachischisis and duplication of most of the foregut derivates is presented. The major part of the cardiovascular system remained single but the heart exhibited severe defects, including a complete persistent atrioventricular canal, transposition of the great arteries and atresia of the pulmonary valve. This report further supports the hypothesis that certain types of incomplete twinning and neural tube defects may be caused by a single teratogenic mechanism.
Two cases of prenatal diagnosis of a satellited Yq chromosome
Authors: Bayless‐Underwood Lynda , Cho Sechin , Ward Brian , Robinson Arthur
Published: July 2010

Accurate interpretation of chromosomal variants is essential in prenatal diagnosis in order to distinguish polymorphisms from potential pathology in the fetus. This paper reports intrauterine diagnosis of a satellited Yq in two unrelated families. The 29‐year‐old consultand in Case A sought prenatal diagnosis because of a maternal family history of Down syndrome. Case B was studied because of maternal age of 37. GTG banded chromosome analysis of cultured amniotic fluid cells from both cases revealed a 46, XY chromosome constitution with extra material present on the Yqter. This was interpreted to be satellite material. QFQ, CBG and AgNOR staining were performed. The material in question proved to be AgNOR positive, indicating that it was transcriptionally active for ribosomal RNA production during the last cell cycle. In addition, frequent satellite association between the Yqter and other acrocentric chromosomes was noted. These findings confirmed the initial interpretation. Other family members were studied and an AgNOR positive Yqs chromosome was confirmed in normal males in three generations of both families. The Yqs chromosome observed in the fetal cells was therefore considered a normal variant. The outcome of pregnancy in Case A was a phenotypically normal male. Case B had not delivered at the time of this writing. The origin of this satellite material on the Y chromosome is considered.
A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation
Authors: Metaxotou C. , Ikkos D. , Panagiotopoulou P. , Alevizaki M. , Mavrou A. , Tsenghi C. , Matsaniotis N.
Published: July 2010

A 14‐year‐old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46, Y, der (X), t(X;) (p22;q11). His mother's karyotype was 46, X, der (X), t(X; Y) (p22;ql 1). Thus the son is nullisomic for the region Xp22 → pter and the mother is monosomic for the same region.

The steroid sulfatase activity in this boy is discussed in relationship to the enzyme's locus on the X chromosome and the manifestation of ichthyosis.
Genetic regulation of the red cell uroporphyrinogen‐l‐synthetase level in families with acute intermittent porphyria
Authors: Wetterberg L. , Floderus Y. , Thunell S. , Iselius L. , Lindsten J.
Published: July 2010

The uroporphyrinogen‐I‐synthetase (UIS) activity in red blood cells was determined in 206 individuals from 48 nuclear families ascertained through a proband with acute intermittent porphyria (AIP) as well as in 230 members belonging to 53 nuclear families with no signs of AIP. Complex segregation analysis showed that the UIS activity is regulated by a major locus (a dominant or additive gene) together with a considerable multifactorial component.
Additional data on spontaneous abortion and facial cleft malformations
Authors: Bear J. C.
Published: July 2010

Examination of fetal wastage data for a large collection of CL ± P and CP sibships reported previously (Bear 1978) does not indicate the frequency of recognized abortion to be higher in the sibships of CL + P vs CL index cases, female vs male CL ± P index cases, bilateral vs unilateral CL ± P index cases, female bilateral CL ± P index cases vs male unilateral CL ± P index cases, or male vs female CP index cases. These observations fail to confirm those reported by Dronamraju (Dronamraju et al. 1982, Dronamraju & Bixler 1983a, b), and provide no evidence of a positive relation between degree of liability to facial cleft malformation and fetal mortality.
Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics
Authors: Sarkar Rita , Marimuthu K. M.
Published: July 2010

This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45, X/46, XX) and Klinefelter mosaics (47, XXY/46, XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.
The relevance of pre‐amniocentesis pedigree analysis and genetic counseling
Authors: Holzgreve Brigitte , Holzgreve Wolfgang , Golbus Mitchell S.
Published: July 2010

Prenatal diagnosis by amniocentesis in the second trimester of pregnancy has become widely accepted, and the demand for the procedure is increasing exponentially. It is important to reevaluate critically the time and effort spent obtaining a detailed pedigree analysis and family history prior to amniocentesis. Two hundred unselected consecutive cases of women undergoing amniocentesis because of advanced maternal age were studied. One woman had a brother with Duchenne muscular dystrophy and she was found by CPK testing to be a carrier. The prenatal diagnosis revealed that she was carrying a male fetus with a 50% chance of being affected, and the couple decided to have a termination of the pregnancy. A variety of other familial disorders and teratogenic exposures which were found in the studied 200 families were further explored through genetic counseling. Additional reasons for the individual pre‐amniocentesis counseling include reducing anxiety and responding to specific psychosocial aspects of the prenatal diagnosis procedure in particular families.
Linkage analysis in von Willebrand disease
Authors: Verp M. S. , Radvany R. M. , Green D. , Conneally P. M. , Patel V. A. , Martin A. O. , Simpson J. L.
Published: July 2010

We studied a 3‐generation kindred to determine whether the gene responsible for one form of von Willebrand disease (vWD) is linked to 1) the HLA locus, or 2) a polymorphic locus for a serum enzyme or red cell antigen. HLA haplotypes were determined in 12 affected family members, in 10 cases by direct analysis and in 2 cases by deduction. Seven of 12 affected individuals were A2, B7, as compared to 0 of 9 unaffected. However, the maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein markers studied, 5 (Kell, ADA, AK1, BF, GC) did not segregate, and 12 (ABO, Rh, JK, Fy, P, PGM1, ACPI, ESD, GLOl, MN, HP, GPT) gave lod scores less than +1.0. We conclude that there is no strong evidence for linkage between the locus for vWD and any of the markers studied.
The femur, fibula, ulna (FFU) complex in siblings
Authors: Zlotogora J. , Rosenmann E. , Menashe M. , Robin G. C. , Cohen T.
Published: July 2010

Two siblings affected with the Femur, Fibula, Ulna (FFU) complex are reported. The FFU complex is relatively common, but was not previously reported in relatives.
The hypertelorism—hypospadias syndrome
Authors: Silva Elias O. da
Published: July 2010

An affected family (five cases and one questionable case) with the hypertelorism‐hypospadias syndrome is reported. Inheritance is either autosomal or X‐linked dominant.
High resolution chromosome banding in the Rubinstein—Taybi syndrome
Authors: Wulfsberg Eric A. , Klisak Ivana J. , Sparkes Robert S.
Published: July 2010

We studied eight cases of the Rubinstein—Taybi syndrome to determine if a detectable chromosome change is associated with this syndrome. High resolution G‐banded analysis of prometaphase chromosomes was carried out on venous blood with two to four karyotypes analyzed for each patient. Initial study of two patients suggested an abnormality in chromosome 15q, but blinded analysis and review of the karyotypes proved to be normal. Therefore, all eight patients had normal G‐banded prometaphase chromosome studies. Because of technical difficulties and observer bias, we urge caution in using high resolution chromosome studies to screen whole karyotypes for suspected abnormalities.
Fetal mortality and cleft lip with or without cleft palate
Authors: Dronamraju Krishna R. , Bixler David
Published: July 2010

Analysis of fetal mortality in sibships of 406 probands with cleft lip with or without cleft palate (CL(P)) indicates that the incidence of fetal mortality is significantly greater in sibships of probands with bilateral CL(P) than in those of unilateral CL(P). The difference is even greater when fetal mortality in sibships of male probands with unilateral CL(P) is compared with that of female probands with bilateral CL(P). These findings support a multifactorial two‐threshold concept in which a lower level of liability results in clefting while a higher level of liability causes fetal mortality.
Fetal mortality in oral cleft families: data from Indiana and Montreal
Authors: Dronamraju Krishna R. , Bixler David
Published: July 2010

Analysis of 418 sibships of oral cleft probands from Indiana, and 288 sibships from Montreal indicate that the incidence of fetal mortality is significantly greater in sibships of probands with cleft lip and cleft palate (CLP) as compared to that in sibships of probands with cleft lip (CL) alone. These findings support a multifactorial‐two‐threshold concept, according to which a lower level of liability results in clefting whereas a higher level of liability causes fetal deaths. They add confirmatory evidence in support of the authors' earlier work, utilizing data from two different sources.
Biochemical abnormalities in connective tissue of osteodysplasty of Melnick‐Needles and dyssegmental dwarfism
Authors: Švejcar J.
Published: July 2010

Biochemical findings in the connective tissue of two rare genetic skeletal dysplasias are reported. Osteodysplasty of Melnick‐Needles showed an increased content of collagen; its increased synthesis may be the expression of the sclerosing process. In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. These point to a deficiency in αl ‐chains which may be the cause of an increase in cross‐linking with a change in cleavage and extractability of collagen.
A simplified PKU gene carrier detection test using fasting blood
Authors: Tenenholz Beverly , Wenger Sharon L. , Breck Jane , Steele Mark W.
Published: July 2010

By fluorometric analysis of fasting phenylalanine and tyrosine plasma levels, we could discriminate classic gene PKU carriers from non‐carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non‐discriminating. However, we could not determine their carrier status by other accepted testing parameters either (such as phenylalanine dosing). In contrast to the latter, our method: (1) allows for 90% of the population a relatively accurate but more benign test for carriers of the classical PKU gene (requiring only fluorometry on a single fasting blood specimen); (2) identifies the remaining 10% of the population who require the more cumbersome‐noxious testing by phenylalanine dosing.
Chromosomal breakage in multiple endocrine adenomatosis (types I and II)
Authors: Gustavson K.‐H. , Jansson R. , Ouberg K.
Published: July 2010

Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients ‐ father and daughter ‐ with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exchanges was not increased.
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome
Authors: Al‐Awadi S. A. , Cuschieri A. , Farag T. I. , Naguib K. , Teebi A. S. , Issa M. , El‐Sayed M.
Published: July 2010

A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra‐abdominal testis, a left streak gonad containing follicle‐like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X‐chromatin negative and a Y‐chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45, X/46, XY/46, X, + i(Yp)/46, X, + Yq–/47, XYY/47, XY + Yq‐.
The wrinkly skin syndrome: A report of two siblings from Saudi Arabia
Authors: Karrar Z. A. , Elidrissy A. T. H. , Arabi K. Al , Adam K. A.
Published: July 2010

A brother and sister born to a Saudi couple showed aging appearance, wrinkled skin over the hands and feet, inelastic skin, prominent veins over the hands, and other musculoskeletal and connective tissue manifestations. Both children were small for their age and had congenital dislocation of the hips. The paper describes the main manifestations and compares them with the previously described two families.
The Rubinstein‐Taybi syndrome: Occurrence in two sets of identical twins
Authors: Baraitser M. , Preece M. A.
Published: July 2010

Two pairs of monozygotic twins, concordant for the Rubinstein‐Taybi syndrome, are reported.
Population genetic analyses of insulin dependent diabetes mellitus using HLA allele frequencies
Authors: Murphy Catherine C. , Acton Ronald T. , Barger Bruce O. , Go Rodney C. P. , Kirk Katharine A. , Reitnauer Pamela J. , Roseman Jeffrey M.
Published: July 2010

In order to try to detect heterogeneity within insulin dependent diabetes mellitus (IDDM) and to distinguish a mode of inheritance of IDDM, population genetic analyses were performed using HLA allele frequencies. HLA‐A and ‐B typing performed on 231 IDDM individuals and 268 controls from the southeastern U.S. showed significant increases with IDDM in A2, B8, B15 and B18, and significant decreases in Aw23, B7, B14 and B17. The combination of HLA‐B8/B15 showed a greatly increased risk (RR = 25.5). Between the 120 IDDM individuals and 123 controls HLA‐DR typed, HLA‐DR3 and ‐DR4 were significantly increased among the IDDM group and DR2 and DR7 were decreased. The risk for DR3/4 was 29.2. It appeared that the B15 association was secondary to the DR4, but the B8/DR3 association showed no difference. Using the method of Curie‐Cohen, no significant increases in risk were found for the B8/B15 or DR3/DR4 heterozygotes when compared to the respective homozygotes. Using the method of Thomson and Bodmer, the dominant mode of inheritance was excluded for DR4 only. There was a significant increase in B15 and DR4 in those with onset before age 20. No significant differences were found among the DR phenotypes with respect to season.
The strength of association between fragile(X) chromosome presence and mental retardation
Authors: Silverman Wayne , Lubin Robert , Jenkins Edmund C. , Brown W. Ted
Published: July 2010

In order to obtain a quantitative estimate of the degree of association between presence of fragile X chromosome (fra(X)) and mental retardation (MR), existing data from nonretarded males were analyzed. Clearly, fra(X) occurs less frequently among nonretarded compared to MR males. However, incidence estimates for fra(X) based upon existing data hold open the possibility that there may be significant numbers of nonretarded males with fra(X). Additional analyses of data from families with a pattern of fra(X) linked MR showed: (a) the probability that nonretarded male offspring will have fra(X) is very small, and (b) the probability that MR male offspring will have fra(X) is very large. Thus, accurate prognostic decisions can be based upon prenatal diagnosis of fra(X) presence, especially in families with a pattern of fra(X) linked MR.
Turner syndrome patients with a ring X chromosome
Authors: Berkovitz Gary , Stamberg Judith , Plotnick Leslie P. , Lanes Roberto
Published: July 2010

A patient with clinical features of Turner syndrome and a 45, X karyotype in repeated blood cultures was re‐evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45, X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45, X and 46, X, r(X) cell lines in various body tissues.
Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing*
Authors: Traupe H. , Müller‐Migl C. R. , Kolde G. , Happle R. , Kövary P. M. , Hameister H. , Ropers H. H.
Published: July 2010

We report two cases with ichthyosis vulgaris, hypogenitalism and hypogonadism. So far, little endocrinological information has been available on this association and the exact type of ichthyosis was unknown. Our first patient suffered from very severe hypergonadotropic hypogonadism, whereas the second patient showed normal levels of luteinizing hormone, but slightly elevated follicle stimulating hormone values. In lipoprotein electrophoresis we found fast moving beta‐lipoproteins in the first patient and a normal electrophoretic mobility of pre‐beta and beta‐lipoproteins in the second patient. Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X‐linked recessive ichthyosis. These two different types in the association of ichthyosis with hypogenitalism and hypogonadism could not be discriminated by clinical, morphological and cytogenetic studies.
The Schinzel syndrome in a mother and daughter
Authors: Hecht Jacqueline T. , Scott Charles I.
Published: July 2010

The Schinzel Syndrome was identified in a mother and daughter. This report expands the phenotype associated with this disorder.
A Weaver‐like syndrome in a Japanese boy
Authors: Tsukahara Masato , Tanaka Suguru , Kajii Tadashi
Published: July 2010

A 5½‐year‐old Japanese boy with a Weaver‐like syndrome is reported. In addition to pre‐ and post‐natal overgrowth, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome. These unusual features included mongoloid slanting of the palpebral fissures, cleft lip, accessory nipples, pectus excavatum, a bifid xyphoid process, irregularly shaped vertebral bodies, inflexible right thumb, clinodactyly of the fifth fingers, abnormal dermatoglyphic patterns and deep plantar furrows. His carpal bone age corresponded to his chronological age, while the tubular bone age was accelerated.