bluuebunny/crossref_metadata_2025 huggingface dataset:
Double pre‐ß lipoprotein in ischaemic heart disease
Authors: Postle A. D. , Darmady J. M. , Siggers D. C.
Published: July 2010

The presence or absence of a double pre‐[5 lipoprotein (pre‐β1 or pre‐β) peak on agarose gel electrophoresis was recorded in:

 77 survivors of myocardial infarction,

 their first‐degree relatives, and

 148 controls.

Thirty‐nine percent of myocardial infarction survivors and 24 % of controls had pre‐β+ (P < 0.05). The segregation of pre‐β1+ in the families of myocardial infarction survivors was consistent with autosomal dominant inheritance. In the control group, fasting serum cholesterol and triglyceride values were higher in the pre β1+ subjects, but the differences were not significant.

We conclude that the presence of a double pre‐β lipoprotein peak on electrophoresis is associated with an increased risk of myocardial infarction.
Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation
Authors: Hongell Karin , Knuutila Sakari , Westermarck Thomas
Published: July 2010

Morphologically similar chromosome anomalies, 8p+, were found in two inmates of an institution for the mentally retarded. Analysis of the G‐ and R‐banding patterns showed that the first subject had a duplication of region p2 of chromosome 8; the second subject had an insertion of an unidentified chromosome segment at 8p11. Both subjects were severely mentally retarded. The physical malformations were more severe in the second subject than in the first, who had only minor signs. The dermatoglyphics are recorded.
Impact of genetic counseling: A review of published follow‐up studies
Authors: Evers‐Kiebooms G. , Vanden Berghe H.
Published: July 2010

Retrospective follow‐up studies on the impact of genetic counseling, published since 1970, are reviewed in the present paper. Particular attention has been paid to evaluation of understanding of genetic information, planning of later pregnancies and real changes in family composition. A rather wide divergence was found with regard to these three parameters, probably more related to the design of the studies than to a divergence in counselees' understanding and decisions, emphasizing that more, and especially more methodologically sound studies are necessary to evaluate the impact of genetic counseling.
Lyon phenomenon in ouabain‐treated erythrocytes of Duchenne muscular dystrophy carriers as revealed by cell electrophoresis
Authors: Szibor R. , Steinbicker V. , Redmann K. , Heuse E.
Published: July 2010

Using the cell‐electrophoretic method, 0.1 mM ouabain/1 Eagle MEM medium caused a moderate decrease in electrophoretic migration time (EMT) of erythrocytes in 19 out of 23 DMD‐affected patients. In 8 out of 10 healthy boys, 0.1 mM ouabain induced an increase in erythrocyte EMT. Under the influence of 0.1 mM ouabain, the erythrocytes clearly showed a bimodal distribution of EMT in 9 out of 13 definite carriers and in 8 out of 17 possible carriers. In DMD patients, and in 10 healthy boys and 10 healthy women, no bimodal distribution of EMT was observed.
A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12‐p21) deletion syndrome
Authors: Fällstrom S. P. , Wahlström J.
Published: July 2010

The clinical picture associated with a deletion of a central part of the short arm of chromosome no. 9 is described in two siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome no. 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.
High alkaline phosphatase activity in isoproterenol stimulated fibroblast cultures from patients with numerically unbalanced chromosomal aberrations
Authors: Hösli Peter , Vogt Esther
Published: July 2010

Treatment of cultured fibroblasts from patients with unbalanced chromosomal aberrations with a mixture of isoproterenol, theophylline and ascorbic acid resulted after 48 hours in an at least three‐fold increase of alkaline phosphatase activity on a per cell basis, whereas cells from normal healthy individuals did not show this dramatic response. Cells were studied from patients with trisomy 21 (14 cases), trisomy 18 (3 cases), trisomy 13 (1 case), pentasomy X (1 case), Turner syndrome (2 cases), and Klinefelter syndrome (1 case), and no exception was noted. The mechanism of this phenomenon is not clear, but it is speculated that increased cyclic‐AMP levels caused by the action of isoproterenol on adenylcyclase may account for excessive reactions of unbalanced cells as compared to normal cells. This simple biochemical diagnostic procedure might become useful in screening programs for unbalanced chromosomal aberrations.
Prenatal diagnosis of thrombocytopenia with absent radii
Authors: Luthy DavidA. , Hall JudithG. , Graham C. Benjamin
Published: July 2010

Six pregnancies at risk for thrombocytopenia and absent radii (TAR) have been studied between 16 and 20 menstrual weeks utilizing fetal radiography. Two affected and four unaffected fetuses have been correctly identified. Fetal radiography can provide reliable prenatal diagnosis in pregnancies at risk for TAR.
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
Authors: Andria Generoso , di Natale Paola , del Giudice Ennio , Strisciuglio Pietro , Murino Patrizia
Published: July 2010

Clinical heterogeneity for Sanfilippo B syndrome (MPS III B) in the same family has never been reported previously. We describe two clinically severe cases and one clinically mild case of MPS III B in a Neapolitan sibship. We could not detect N‐acetyl‐α‐D‐glucosaminidase activity in the sera of either the severe or mild cases. Mucopolysac‐chariduria mainly due to heparan sulfate excretion was consistently high in the severely affected patients and extremely variable in the mildly affected one.
Dizygosity of discordant twins with Noonan syndrome
Authors: Lai K. N. , Lam K. C. , Lawton J. W. M.
Published: July 2010

A pair of discordant twins, one of whom had Noonan syndrome, is reported. Most of the cardinal signs of Noonan syndrome were demonstrated by the affected twin. The etiology of the syndrome is briefly reviewed. The dizygosity of the twins was proved by ABO blood grouping and mixed lymphocyte reaction. The findings are interpreted as reasonably good evidence that genetic factors are the prime etiology in the pathogenesis of Noonan syndrome.
Additions to the myotonic dystrophy linkage group
Authors: Larsen Bodil , Johnson Gordon , Van Logkem Erna , Newton RonaldMichael , Pryse‐Phillips William
Published: July 2010

One hundred and thirty members of a family with 33 cases of Dystrophia myotonica (Dm) were tested for various genetic markers including Km, Jk, Lu and Se. All individuals tested were Luanegative, but many were heterozygous for the other markers. Except for two cases all patients with Dm were positive for Km3 and Jkaand they were secretors. Assuming the genes are linked and that the order of the loci is Km, Jk, Lu, Se, Dm, then there were 22 meioses informative for Dm and in 10 of these a recombination must have occurred between two of the five loci. Looking at individual pairs of loci, there were no recombinations between Km and Jk in seven informative meioses, three recombinations out of 10 meioses informative for Jk/Se, no recombinations between Se and Dm in five informative meioses and three recombinations out of 12 meioses informative for Jk/Dm.
Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation
Authors: Gosden J. R. , Gosden C. M. , Lawrie S. S. , Buckton K. E.
Published: July 2010

The distribution of satellite DNA and nucleolar organiser activity have been studied in a female with a new dicentric translocation chromosome derived from the maternal chromosomes 13 and 14. More than half the satellite DNA (60.5 %) was lost in the translocation, together with both the nucleolar organiser regions (NORs). However, at least one NOR (chromosome 21) which was inactive in the mother (by the Agl reaction) is active in the subject, and this may be an example of functional compensation.

The somatic cells of the mother of the subject, which do not have the translocation, show a high frequency of acrocentric associations, but these do not include any obvious excess of associations involving chromosomes 13 and 14, indicating that the high frequency of association in somatic cells is not in itself a predisposition to Robertsonian translocation in germ line cells. The father's chromosomes 9 both have more satellite DNA in the secondary constriction than normal, but this is not reflected in any obviously larger size of the C‐band in this region.
A major locus for hyper‐β‐lipoproteinemia with xanthomatosis
Authors: Iselius Lennart
Published: July 2010

Complex segregation analysis of hyper‐β Mipoproteinemia with xanthomatosis has provided strong evidence for a major locus, in addition to significant polygenic effect and sibling environment. Estimates of gene frequency agree with values generally given in the literature.
Partial trisomy 1q syndrome
Authors: Rehder Helga , Friedrich Ursula
Published: July 2010

Six cases of partial trisomy lq, including four cases from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy lq.
Hallervorden‐Spatz disease
Authors: Elejalde B. Rafael , Elejalde MariaMercedesJ. de , Lopez Federico
Published: July 2010

We had the opportunity to study a family, five of whose members were affected by the Hallervorden‐Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P> 0.23 ± 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system.

The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 ± 7.8 years.
Partial trisomy 12q associated with a familial translocation
Authors: Hemming Lorraine , Brown Richard
Published: July 2010

A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.
Alcohol metabolizing enzymes: Studies of isozymes in human biopsies and cultured fibroblasts
Authors: Goedde H. W. , Agarwal D. P. , Harada S.
Published: July 2010

Rapid and sensitive micromethods for the study of alcohol dehydrogenase and aldehyde dehydrogenase isozymes in skin extracts, cultured fibroblasts and other organs are presented. Possibilities for the application of these techniques to the study of interindividual variations in response to alcohol are discussed. While fibroblasts cultured from a skin biopsy from one Japanese individual revealed a heterodimer (ADH22‐1) of alcohol dehydrogenase, skin extract from another Japanese showed a homodimer (ADH22‐2). Up to four isozyme sets for aldehyde dehydrogenase (ALDH) were detected in various human organs and at least three sets were found in skin and fibroblast extracts. Our preliminary data on liver, stomach, and skin indicate that ALDH is polymorphic and several loci are concerned in the determination of these isozyme sets.
Counseling problems when twins are discovered at genetic amniocentesis
Authors: Hunter AlasdairG. W. , Cox DavidM.
Published: July 2010

With the increased use of routine ultrasonography at the time of genetic amniocentesis, twins are increasingly likely to be discovered at the time when the procedure is to be carried out. In the presence of twins the likelihood of finding an abnormality may be significantly increased, but at the same time problems such as discordance between the twins for the abnormality, or the inability to test both twins may occur. This altered situation may affect the parents' decision as to whether or not to undertake amniocentesis, and the need for additional counseling prior to proceeding with the amniocentesis is stressed.
A patient with a 47, XXY,5p‐ karyotype
Authors: Palevsky S. , Radfar N. , Pan S. , Steele M. W.
Published: July 2010

A case is reported of a liveborn with the karyotype 47, XXY,5p ‐. This is the first known case of a liveborn with apparently both Klinefelter and Cri du Chat syndromes.
Recurrence risks for congenital hydrocephalus
Authors: Burton BarbaraK.
Published: July 2010

To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence risks for use in genetic counseling, records were reviewed on all patients with this diagnosis seen from 1968 to 1977. A total of 205 patients with documented hydrocephalus were identified in whom a specific non‐genetic etiology could not be established. Of the 205 patients, 88 (57 M, 31 F) had aqueductal obstruction, 77 (49 M, 28 F) had communicating hydrocephalus, 26 (8 M, 18 F) had the Dandy‐Walker syndrome, and 14 (7 M, 7 F) had other anatomic lesions. The 205 patients had a total of 353 full siblings, five with hydrocephalus (1.4 %). Of these five, four were male siblings of male patients with aqueductal obstruction, suggesting that these patients constitute a subgroup at high risk of having a genetic disorder. The overall recurrence rate among siblings of this group was 6 % (12 % for male sibs), suggesting that up to 25 % of cases of aqueductal obstruction in males may be the result of an X‐linked recessive disorder. The recurrence risk for siblings of other patients with hydrocephalus appears to be quite low.
Distal trisomy 17q
Authors: Turleau C. , de Grouchy J. , Bouveret J. P.
Published: July 2010

A 3‐year‐old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low‐set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.
A case of cyclopia Role of environmental factors
Authors: Mollica F. , Pavone L. , Nuciforo G. , Sorge G.
Published: July 2010

A woman who had viremia and was given various drugs early in pregnancy gave birth to a cyclops with a normal karyotype.
Evolutionary conservation of large chromosomal segments reflected in mammalian gene maps
Authors: Lundin L.‐G.
Published: July 2010

Conservation of genetic linkage over long periods of time is exemplified. Comparisons are made between chromosomal regions in different species as well as within two species, man and the house mouse. Homologous regions are defined and the phenomenon of differential silencing of genes is described. The importance of conservation of particular sequences of genes is discussed in relation to medical genetics, animal breeding, evolutionary theory and genetic regulation.
Anthropometry in the Cri du Chat syndrome
Authors: Niebuhr E.
Published: July 2010

Anthropometric and cranial X‐ray measurements of 35 individuals with a 5p– karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Only the inner canthal distance was moderately increased, especially in young individuals, but there was no true hypertelorism. The palate was not high‐arched. Large and small terminal deletions produced much the same anthropometric features; and the proband's sex did not have a major influence. Age variations within parameters examined followed the developmental pattern of normal individuals. A certain phenotypical variation in the Cri du Chat syndrome may therefore be attributed to normal changes or to intrapersonal conditions.
A suggestion of linkage between the Marfan syndrome and the rhesus blood group
Authors: Mace Margaret
Published: July 2010

The linkage relationships of the locus for the Marfan Syndrome were investigated with 19 marker loci in 17 families. Close linkage with several marker loci was excluded. There was a suggestion of linkage between the locus for the Marfan Syndrome and Rh.
Down's syndrome in Western Australia: mortality and survival
Authors: Mulcahy MarieT.
Published: July 2010

An epidemiological investigation of 231 cases of Down's Syndrome born in Western Australia between 1966 and 1976 confirmed the importance of congenital heart disease as a determinant of early mortality. An unexplained and hitherto unreported high incidence of Sudden Death in Infancy Syndrome in Down's Syndrome births was also found. Life tables presented, and comparison of survival rates with those of other investigators show, that mortality amongst cases of Down's Syndrome with no congenital heart defect has decreased and longevity is no longer a rare occurrence. As a result of these changes, and despite a demonstrable fall in the incidence of Down's Syndrome in Western Australia, the prevalence of the condition is expected to rise.
Chromosomal variants in mentally retarded and normal men
Authors: Soudek D. , Sroka Helena
Published: July 2010

The possible phenotypic effect of chromosomal variants is as yet an unsolved problem. QM‐ and C‐banded chromosomes of 100 male patients with idiopathic mental retardation were compared with chromosomes of 100 Royal Military College cadets, as controls. Increased size of 9qh seems to be a factor with possible negative effects. 9qh– was found to be more common in the control sample. Another variant found more often in the retarded subjects was 16qh –. Increased frequencies of Yq+ or small inversions in chromosomes 3 and 9 were not found in the retarded.
Catecholamine metabolism in familial amyloid polyneuropathy
Authors: Suzuki Tomokazu , Tsuge Isao , Higa Sadayoshi , Hayashi Akira , Yamamura Yuichi , Takaba Yoshio , Nakajima Akira
Published: July 2010

In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine‐β‐hydroxylase (DBH) activity were examined in 22 patients at various clinical stages. Changes in both indices were closely linked to the progression of the illness; urinary excretion rates of catecholamines were first decreased in patients suffering from moderate autonomic dysfunction, while serum DBH activity was significantly reduced only in patients with far advanced disease. These findings suggested that patients with advanced disease might be suffering from a chronic deficiency of catecholamines in the peripheral sympathetic nerves. Administration of L‐dopa, however, failed to improve the clinical manifestations.
Long‐term complications in Hunter's syndrome
Authors: Young I. D. , Harper P. S.
Published: July 2010

This report describes the clinical and investigative findings in a 31‐year‐old man with Hunter's syndrome, showing evidence of severe multisystem involvement. Papilloedema has been present for at least 8 years with no evidence of progressive visual impairment. His most serious and life‐threatening complications are laryngeal oedema and tracheal narrowing, which both compromise his respiratory function and constitute a major anaesthetic risk.
Prader‐Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases
Authors: Michaelsen Kim Fleischer , Lundsteen Claes , Hansen Flemming Juul
Published: July 2010

Two cases of the Prader‐Willi syndrome with 46, XY/47, XY, + mar are reported. The majority of Prader‐Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader‐Willi syndrome is discussed.
Oculodento‐osseous dysplasia: heterogeneity or variable expression?
Authors: Brighton P. , Hamersma H. , Raad M.
Published: July 2010

Oculodento‐osseous dysplasia (ODOD) has been recognised in three South African patients from two kindreds of Dutch descent. Their ocular, nasal, dental and digital stigmata resembled those of previously reported cases, but their cranial hyperostosis and mandibular overgrowth were of much greater degree. In addition, the two survivors had serious neurological complications consequent upon spinal cord compression at the base of the skull and calcification of the basal ganglia.

Two of the patients were the product of marriages between a pair of brothers and a pair of sisters, who were themselves clinically normal. This situation is best explained by autosomal recessive inheritance. As ODOD is usually transmitted as an autosomal dominant, and in view of the unusual severity of the manifestations in our patients, it is possible that the condition is heterogeneous and that they had a distinct autosomal recessive form of the disorder. The presence of minimal stigmata in the mother and two prior generations of our third patient could be equally well interpreted as representing great variation in phenotypic expression of a single dominant gene or manifestation in a heterozygote for a recessive gene.
Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria
Authors: Cohen A. M. , Shabtai F. , Lewinski U. , Klein B. , Djaldetti M.
Published: July 2010

Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be a clonal disorder, although most investigations have failed to show chromosomal abnormalities. The present patient suffered from PNH and exhibited in bone marrow cells two abnormal clones with 47 chromosomes in addition to cells with 46 chromosomes. One clone showed trisomy 9, a finding previously reported in leukemias and myeloproliferative disorders. Thus, PNH seems to be a clonal myeloproliferative disease.
Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture
Authors: Romavn D. R. , Columbano‐GReen L. , Smythe R. H. , Dukes P. C.
Published: July 2010

The identification is reported of an extra bisatellited metacentric microchromosome in amniotic cell culture from the third pregnancy of an identical twin (amniocentesis being performed because of age), and its subsequent finding in the maternal parent as an inherited familial marker. The carriers of the microchromosome are all clinically normal and the parents opted for continuation of pregnancy. Only one other report was found in the literature of a similar microchromosome detected in amniotic fluid culture, but we believe ours to be the first bisatellited microchromosome to be clearly identified from an amniotic cell culture using silver staining.
A chromosome survey of a hospital for the mentally subnormal
Authors: Faed M. J. W. , Robertson I. , Field M. A. S. , Mellon J. P.
Published: July 2010

A cytogenetic survey of 756 resident, but otherwise unselected, mentally retarded patients in a Scottish hospital is reported. The karyotypes of all patients were examined using orcein‐stained cells, and those found to be abnormal, other than those with standard trisomy 21, were further investigated using a banding technique. A total of 103 patients were found to have an abnormal chromosome complement, of whom 91 had Down's syndrome (including six with translocations), six had some other autosomal abnormality, and six had an abnormality of the sex chromosome complement, including two with an XXYY complement. Details of the clinical and cytogenetic features are presented.
Five familial cases with a trisomy 16p syndrome due to translocation
Authors: Leschot N. J. , Nef J. J. De , Geraedts J. P. M. , Becker‐Bloemkolk M. J. , Talma A. , Bijlsma J. B. , Verjaal M.
Published: July 2010

A clinical description is given of a syndrome present in three postnatally and two prenatal‐ly detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (pll;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low‐set ears, palato(gnatho)schisis, micrognathia, thumb‐agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.
Linkage analysis using heterozygote detection in phenylketonuria
Authors: Paul Thomas D. , Brandt Ira K. , Elsas L. J. , Jackson Charles E. , Nance Carol S. , Nance Walter E.
Published: July 2010

This linkage investigation was undertaken utilizing an improved method for phenylketonuria (PKU) heterozygote detection. This method is based on studies of semi‐fasting, noon‐time, blood specimens obtained from 85 obligate heterozygotes and 45 controls who were neither pregnant nor on birth control medication. The best separation between heterozygotes and normals was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine, tyrosine and tryptophan. The theoretical overlap area between the distributions of heterozygotes and controls, based on the above function, was 3.75 %. In 19 obligate heterozygotes and 13 controls who were either pregnant or on birth control medication, the best separation was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine and tyrosine. The theoretical overlap area was 8.23 %. These equations identified heterozygotes with sufficient accuracy to permit efficient genetic linkage analysis.

We were unable to demonstrate genetic linkage between the PKU locus and 15 common blood, serum, and urinary markers. All but loose linkage (θ > 0.3) was excluded for Rh, ABO, Gc, Kidd, and AP. Moderate linkage exclusion (θ < 0.2) was shown for PGM, Duffy, Hp, MNS, HL‐A, and Kell. Close linkage (θ < 0.1) was excluded for Amy2, 6PGD, P, and ADA. We were unable to find linkage heterogeneity between the Amish and non‐Amish populations.
Familial cardiomyopathy: Autosomally, dominantiy inherited congestive cardiomyopathy with two cases of septal hypertrophy in one family
Authors: Móller Pal , Lunde Per , Hovig Torstein , Nitter‐Hauge Sigurd
Published: July 2010

A family with inherited congestive cardiomyoipathy is presented. The diagnosis is based on clinical, morphological and laboratory evaluations. The first observed sign of the disease is arrhythmia and/or conduction defects. The onset of symptoms of pump failure is in adult life, and affected persons die within several years. Three persons have died suddenly. Septal hypertrophy was present in two affected persons. The mode of transmission is probably autosomal dominant. The recognition of arrhythmia as an early sign of the disease offers the opportunity of an early diagnosis.
Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families
Authors: Crane James P.
Published: July 2010

Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed.

A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20 % versus 3 %) and a lower incidence of additional life‐threatening malformations (3.6 % versus 47 %). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.
A reciprocal translocation (X;11) in a female with gonadal dysgenesis
Authors: Dorus Elizabeth , Amarose Anthony P. , Tredway Donald R. , Reale Frank R. , Hatch Richard , Serrano Lucia F.
Published: July 2010

A 24‐year‐old female patient was referred for evaluation of primary amenorrhea. Endocrine studies showed elevated gonadotropins, consistent with gonadal failure. At laparoscopy, a normal nulligravid uterus, normal fallopian tubes, and bilateral streak gonads were observed. Histologic studies showed that the left gonad consisted entirely of fibrous tissue, confirming the presence of streak gonads. Chromosome banding studies of peripheral blood and cultures of tissue from the left gonad demonstrated a 46, X, rcp(X;11)(q22;q13) karyotype. A review of reports of X‐autosome reciprocal translocations indicated that abnormal gonadal development is associated with break‐points in the mid‐region of the long arm of the X chromosome.
Fanconi's anemia: terminal leukemia and “Forme fruste” in one family
Authors: Schroeder T. M. , Pöhler E. , Hufnagl H. D. , Stahl‐Maugé CH.
Published: July 2010

Two adult sisters are described. One with a full clinical, hematological and cytogenetic picture of Fanconi's anemia died of monocytic leukemia. The other woman has several malformations and clinical signs which are found in Fanconi's anemia, but does not show any hematological disorder or sign of bone marrow insufficiency. Cytogenetic findings in this case are comparable to those typical cases with Fanconi's anemia. This case is therefore considered to represent a “forme fruste” of Fanconi's anemia.
The Aarskog (facio‐digito‐genital) Syndrome
Authors: Hoo J. J.
Published: July 2010

A kindred with the Aarskog Syndrome (facio‐digito‐genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft palate may well be facultative features of the Aarskog syndrome, and that the characteristic dermatoglyphic pattern includes simian creases and distal axial triradii. The pedigree analysis from 14 known kindreds strongly suggests an X‐linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.
Retinal manifestations in familial juvenile nephronophthisis
Authors: Godel Victor , Luna Adrian , Nemet Pinhas , Lazar Moshe
Published: July 2010

Three families affected by juvenile nephronophthisis are described and genetically analyzed. The extrarenal manifestations of the disease include retinal findings such as congenital Leber amaurosis, retinitis pigmentosa and sector retinitis pigmentosa. Autosomal recessive transmission and the wide phenotypic spectrum are discussed. The variability in the retinal findings is explained by the presence of a pleiotropic gene with variable expressivity.
Uncultured cells in amniotic fluid from normal and abnormal foetuses
Authors: Papp Z. , Bell Jeanne E.
Published: July 2010

Direct smears of uncultured amniotic fluid cells were analysed in 41 pregnancies between 17 and 22 weeks of gestation. These included 27 normal pregnancies where a healthy child was born at term, six anencephalic and five spina bifida pregnancies, and three other abnormal pregnancies. In normal amniotic fluid, epithelioid cells predominated but small numbers of histiocyte‐like cells, typical macrophages and elongated cells were also present. The proportion of macrophages and elongated cells was significantly increased in all anencephalic cases. Two of the spina bifida cases also showed abnormal cellular proportions. Haemosiderin and lipid material was demonstrated in some of the macrophages. Tissue smears and histological preparations suggest that these cells may originate from both the amnion and the fibrovascular membrane covering the neural lesion.

This direct method of observation of amniotic fluid cells, not involving culture techniques, could provide a rapid means of prenatal diagnosis of anencephaly, and may help in the diagnosis of spina bifida.
Healthy female carriers of a gene for the Alport syndrome: Importance for genetic counseling
Authors: Tishler Peter V.
Published: July 2010

Of 305 female obligatory carriers of a gene for the Alport syndrome identified in the literature, 37 (12.1 %) had no clinical or laboratory signs or symptoms (renal, audiometric, ophthalmological) of disease. The prevalence of unaffected female obligatory carriers appeared not to vary according to age or to the severity of the illness in male members of any pedigree. Normal clinical or laboratory data for any female liable for the Alport syndrome must thus be interpreted with caution.
Genetic basis of acquired C4 deficiency
Authors: Cream J. J. , Olaisen B. , Teisberg P. , Soler A. V. , Thompson R. A.
Published: July 2010

A study of the family of a patient who had an SLE‐like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60–70 % of “normal” C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a combination of genetically determined low normal C4 and increased consumption/hyposynthesis secondary to her SLE.
An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome)
Authors: Kurnit1 David , Hall Judith G. , Shurtleff David B. , Jr. M. Michael Cohen
Published: July 2010

This is the second report of a dominantly inherited syndrome of facial asymmetry, esotropia, and amblyopia (Bencze syndrome). The phenotypic spectrum is expanded to include submucous cleft palate. The observation for the first time of male‐to‐male transmission seems to confirm an autosomal dominant mode of inheritance. The facial asymmetry in this family was mild and did not require surgical intervention. With the exception of one patient who had other abnormalities, intelligence was normal.
Phenotypic variation in two patients with a ring chromosome 22
Authors: FUNDERBURK S. J. , SPARKES R. S. , KLISAK I.
Published: July 2010

Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.
Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1‐phosphate uridyl transferase locus
Authors: Benson P. F. , Brandt N. J. , Christensen E. , Fensom A. H.
Published: July 2010

We describe our experience in prenatal diagnosis of six foetuses at risk for galactosaemia. In one family the parents were both shown to be double heterozygotes at the galactose 1‐phosphate uridyl transferase (Gal‐PUT) locus, the mother having a Duarte Suppl.Los Angeles and the father a Duarte Suppl.galactosaemia genotype. The foetus (and an older brother previously thought to have classical galactosaemia) was also a Duarte/galactosaemia double heterozygote. In the other five families, the parents and three foetuses were heterozygous carriers of the galactosaemia gene, one of the foetuses had galactosaemia, and one was homozygous for the normal gene. It is concluded that by a combination of family studies and assay of cultured amniotic cell Gal‐PUT, accurate prediction of the foetal Gal‐PUT genotype is now possible.
Lumbar kyphosis in Hunter's disease (MPS II)
Authors: Benson P. F. , Button L. R. , Fensom A. H. , Dean M. F.
Published: July 2010

Although radiological involvement of the lower dorsal and upper lumbar vertebrae is common in the severe form of Hunter's disease (MPS II), there are reports in the literature that clinical kyphosis does not occur. We report a boy with marked clinical kyphosis in whom the diagnosis of MPS II was proved by demonstrating a severe deficiency of serum and leucocyte iduronate‐sulphate sulphatase and an accelerated incorporation of radiosulphate into his cultured fibroblast glycosaminoglycans, which could not be corrected by the product of other typed reference MPS II cells. The existence of several other genetic diseases, sometimes complicated by kyphosis, was excluded by assay of fibroblast lysosomal enzymes.
Inheritance of microtia and aural atresia in a family with five affected members
Authors: Zankl M. , Zang K. D.
Published: July 2010

Only a few reports of congenital meatal atresia and microtia have been published. Dominant as well as recessive inheritance has been suggested. We report a family with five affected members in two generations. An irregularly dominant transmission seems to be the most likely explanation.
A distinct variant of the Ehlers‐Danlos syndrome
Authors: Hernández A. , Aguirre‐Negrete M. G. , Ramírez‐Soltero S. , González‐Mendoza A. , Martínez R. MartínezY , Velázquez‐Cabrera A. , Cantú J. M.
Published: July 2010

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers‐Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
Interstitial deletion 13q33 resulting from maternal insertional translocation
Authors: Emanuel B. S. , Zackai E. H. , Moreau L. , Coates P. , Orrechio E.
Published: July 2010

A 32‐month‐old female with a unique interstitial deletion of 13q is presented, including cytogenetic and gene marker studies. The deleted 13 in the patient is a result of malsegre‐gation of a maternal insertional translocation involving chromosomes 7 and 13, 46, XX, ins (7;13)(q22;q32q34). The demonstration of two esterase D alleles in this patient excludes band 13q33 as the site of the ESD locus, previously assigned to the distal long arm of chromosome 13. The BUdR dye studies reveal that the replicative pattern for 13q31 and 13q21 is not altered by deletion of 13q33 and permit precise delineation of the breakpoints of the rearrangement.
Lp(a) phenotypes, other lipoprotein parameters, and a family history of coronary heart disease in middle‐aged males
Authors: Berg Kåre , Dahlén Gosta , Bórresen Anne‐Lise
Published: July 2010

In a study of 95 presumably healthy, 4CM2‐year‐old males from Northern Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28 % in the latter group. Thus, in the homogeneous population sample studied, analysis of the normal, inherited Lp(a) variation permitted the identification of distinct subpopulations, with respect to familial occurrence of coronary heart disease. None of a series of other parameters distinguished such sub‐populations.

The results reported are in agreement with our previous finding of a close association between phenotype Lp(a+) and risk of contracting coronary heart disease.
Heterozygote detection in glucose‐6‐phosphate dehydrogenase deficiency: limitation of hair follicle analysis
Authors: Vermorken A. J. M. , Spierenburg G. Th. , Bennekom C. A. van , Bruyn C. H. M. M. de , Oei T. L. , Staal G. E. J. , Geerdink R. A.
Published: July 2010

Glucose‐6‐phosphate dehydrogenase deficiency was demonstrated in a case of favism. The X‐linked enzyme defect was expressed in erythrocytes but not in hair root cells. Predictably, the mother shown to be a heterozygous carrier on the basis of intermediate erythrocyte glucose‐6‐phosphate dehydrogenase activity could not be identified as a carrier by means of hair root study. It seems to be necessary to test the hair roots of at least one enzyme‐deficient member of the family to exclude false negative results, if hair root analysis is used for carrier detection. Because of the more or less clonal origin of hair roots, they remain a convenient biopsy material with which to study heterozygosity in X‐linked inborn errors of metabolism.
Human amniotic fluid CX‐L‐fucosidase
Authors: Alhadeff Jack A. , Andrews‐Smtth Grai L.
Published: July 2010

The activity and properties of a‐L‐fucosidase in 24 samples of amniotic fluid have been investigated using the 4‐methylumbelliferyl substrate. A wide range of fucosidase specific activity (0.20‐1.45 nmol/min/mg protein) was found with an average value of 0.62 nmol/ min/mg protein. Although no clear‐cut correlations exist, there appear to be trends of decreasing fucosidase specific activity with increasing maternal age of donor and increasing gestational time.

α‐L‐Fucosidase activity from four amniotic fluids was characterized kinetically and im‐munochemically and found not to differ in its properties due to maternal age of donor or gestational time. Isoelectric focusing revealed multiple forms between pH 5.0 and 6.8, with the majority of activity present between pH 5.0 and 6.0. The pH optimum is near pH 5.0 with a second optimum suggested at pH 6.2. The apparent Michaelis constant (Km) for the 4‐methylumbelliferyl substrate is 0.05 ± 0.01 mM. The enzyme is completely thermostable at 37°C for at least 4 h but loses 95 % of its activity after preincubation at 45°C for 1 h. Double immunodiffusion and immunoprecipitation experiments using anti‐liver α‐L‐fucosidase antibody suggest that the amniotic fluid α‐L‐fucosidase is antigenically similar, if not identical, to the human liver enzyme.
Fanconi's anaemia associated with haemophilia A
Authors: Ljung Rolf , Holmberg Lars , Nilsson Karl‐Olof , Thilén Astrid
Published: July 2010

Fanconi's anaemia and haemophilia A are both inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic treatment.
Hereditary angioedema: Lack of close linkage with markers on chromosome 6, with data on other markers
Authors: Stewart G. J. , Basten A. , Kirk R. L. , Serjeantson S. W.
Published: July 2010

Members of two Australian families with type A Hereditary Angioedema (HAE), having affected individuals in three generations, were typed for a large number of genetic marker systems in a search for close linkage with the locus controlling CI inhibitor (CI inh). The evidence from both families indicated lack of close linkage with HLA or with the loci for Bf and GLO on chromosome 6. Very close linkage was also excluded between the locus for CI inh and the loci for 6PGD, PGM1 and MNSs. The other markers were not informative, but data on all systems showing variation are reported. The publication of similar data for other kindreds will help to determine lod scores for the probability of linkage between the CI inh locus and loci controlling common protein polymorphisms. Linkage studies of this kind could establish whether the loci controlling type A and B HAE are identical or separate.
Mucopolysaccharides in osteochondrodysplasias
Authors: Francis Gary L. , Feng Edith , Rennert Owen M.
Published: July 2010

Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non‐sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non‐sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.
Down syndrome due to 21;21 translocation in a male twin
Authors: Balfour Beverly , Say Burhan , Geffen William A. , Morgan David G. , Carpenter Nancy J. , Munshi Gaurang
Published: July 2010

A spontaneous 21;21 translocation resulting in features consistent with Down syndrome is reported in the first born of male fraternal twins. No history of twinning or chromosomal abnormalities in the family was noted. Any association between dizygous twinning and Down syndrome due to de novo translocation remains speculative until a sufficient pool of published data is available from study of such families.
Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions
Authors: Genest Paul
Published: July 2010

Chromosome analysis of 51 married couples with repeated spontaneous abortions revealed a normal female karyotype in all wives, whereas 39 (76.5 %) husbands showed a normal Y chromosome, 10 (19.6 %) a Yq +, one (1.9 %) a Yqs and one (1.9 %) two Y chromosomes. The high incidence of Yq + found in this investigation correlates with previous reports and indicates that the risk of spontaneous abortions is increased when the male partner has a large Y chromosome.
Complete and partial trisomy of different segments of chromosome 8: case reports and review
Authors: Fineman Robert M. , Ablow Ronald C. , Breg W. Roy , Wing S. Douglas , RoseSteven Judith S. , Rothman L. G. , Warpinski James
Published: July 2010

This report describes some of the clinical, chromosomal and radiological findings in three unrelated patients with trisomy 8 mosaicism syndrome (T8ms), two first cousins with trisomy 8q and a patient with trisomy 8p. On the basis of the phenotypic and cytogenetic findings seen in our six patients and those noted in previous reports, we concur with Riccardi & Crandall (1978) that most physical malformations seen in T8ms are associated with trisomy for the long arm of chromosome 8.
Frontometaphyseal dysplasia with congenital urinary tract malformations
Authors: Kanemura Toshio , Orii Tadao , Ohtani Michihlro
Published: July 2010

A 12‐year‐old boy with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. He also had congenital urinary tract malformations and chronic urinary tract infection. The cranial and facial bones of the patient were studied by roentgen cephalometric analysis.