bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)
Authors: Loonen M. C. B. , Schram A. W. , Koster J. F. , Niermeijer M. F. , Busch H. F. M. , Martin J. J. , Brouwer‐Kelder B. , Mekes W. , Slee R. G. , Tager J. M.
Published: July 2010

In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of a muscle biopsy (including light‐microscopy, histochemistry and electron‐microscopy), or by ultrastructural examination of a skin biopsy. Heterozygotes could be identified to a large, but still limited extent, by measuring the acid α‐glucosidase activity in urine, cultivated fibroblasts, leucocytes, or skeletal muscle. Heterozygotes for the generalized form of AMD could not be distinguished from those for the muscular form. The limitations of heterozygote identification by means of enzyme assays are discussed, and some practical aspects for genetic counselling are mentioned.
Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
Authors: Happle Rudolf
Published: July 2010

Cataracts are suggested as a diagnostic marker to differentiate between the three types of chondrodysplasia punctata so far known. Both the rhizomelic and the X‐linked dominant types are associated with cataracts in about two‐thirds of the cases. In the rhizomelic type, the opacities tend to be bilateral and symmetrical. In the X‐linked dominant type they are usually asymmetrical and often unilateral. In contrast, the consistent lack of cataracts is characteristic of the autosomal dominant type of chondrodysplasia punctata.
Apparent influence of marker genotypes on variation in serum cholesterol in monozygotic twins
Authors: Magnus P. , Berg K. , Børresen A.‐L. , Nance W. E.
Published: July 2010

Ninety‐seven monozygotic (MZ) twin pairs were grouped by marker system genotypes, and mean intrapair differences in serum total cholesterol level were compared between groups. Significant differences were found when the MNSs and the Kidd blood group systems were considered. The results appear to suggest a restrictive effect of certain normal marker genes on environmentally caused variation in serum cholesterol level.
Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia
Authors: Wendt Lennartv. , Alanko Hannu , Sorri Martti , Toivakka Erkki , Saukkonen Anna‐Liisa , Similä Seppo
Published: July 2010

Heterozygotes for nonketotic hyperglycinemia (NKH), a disorder of glycine degradation, have a slightly abnormal metabolism of glycine. As the severe neurological symptoms which are characteristic for the homozygotes are at least partially due to a disturbance of glycine function as a neurotransmitter, minor neuronal dysfunctions might be expected also in heterozygotes. Although their general health was within normal limits in these 13 heterozygotes, slight neurological symptoms and signs were observed. Neurophysiological investigations revealed disturbance of the vestibular function in six subjects, preponderance of β‐wave activity in five, subnormal amplitude of a‐wave, and shortening of implicit time of the first oscillatory potential (OPI) in the retinography. Functioning of peripheral nerves appeared normal in measurements of motor conduction velocity, distal latency and amplitude of muscle response. These minor dysfunctions of the central nervous system may well be due to a slightly abnormal degradation of glycine in heterozygotes for nonketotic hyperglycinemia.
A biastellited marker chromosome in an infant with the caudal regression anomalad
Authors: Jensen Peter K. A. , Hansen P.
Published: July 2010

An infant with the caudal regression anomalad is described. Karyotypic analysis revealed mosaicism for a bisatellited microchromosome. Using banding techniques, an attempt was made to further identify the marker chromosome. It is suggested that a causal relationship exists between the cytogenetic findings and the clinical observations.
Familial tricho‐rhino‐phalangeal syndrome Type II
Authors: Murachi S. , Nogami H. , Oki T. , Ogino T.
Published: July 2010

Two cases, a father and daughter, with all the principal signs of tricho‐rhino‐phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these two patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have offspring. Generalized aminoaciduria was found in the affected daughter.
Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation
Authors: Silengo Margherita Cirillo , Luzzatti Luigi , Centerwall Willard R. , Costello Jack M. , Parslow Malcolm
Published: July 2010

Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds. With age, his hypotonia has improved. The parents have normal chromosomes; the mother has a 9qh+ variant. The second patient, a girl, presented at birth with multiple congenital anomalies including cleft palate, epicanthal folds, anteverted nostrils, horseshoe kidneys and club feet. At 4 years of age, she was small and severely retarded. The normal parents and the normal sister showed no chromosomal abnormalities. Gene mapping studies in both patients failed to define a specific gene locus to the deleted chromosome regions. Including these two patients, there appear to be only three reported cases of patients with 5q deletion. A comparative description of the third patient is included in this report. There are some clinical similarities but these are inadequate to identify a clinical syndrome. This perhaps is explained by some quantitative and qualitative differences in the deletions.
Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity?
Authors: Delleman J. W. , Oorthuys J. W. E.
Published: July 2010

Two patients with similar congenital malformations, consisting of orbital cyst, cerebral malformations and focal dermal hypo‐ and aplasia are described. There is some similarity to the Goltz and Goldenhar syndromes; however, the delineation of a new entity or syndrome seems possible.
Prenatal diagnosis of campomelic dwarfism
Authors: Fryns J. P. , Berghe K. van den , Assche A. van , Berghe H. van den
Published: July 2010

A short‐limbed variety of the campomelic syndrome was found in two sibs. Ultrasonographic diagnosis was carried out in the second sib at 17 weeks of gestation.
Adrenal adenomas in a patient with Gardner's syndrome
Authors: Naylor Edwin W. , Gardner Eldon I.
Published: July 2010

Gardner's syndrome is an autosomal dominant condition characterized by multiple colorectal polyposis, associated with various soft‐ and hard‐tissue tumors. The occurrence of adrenal adenomas in patients with the syndrome has not been fully appreciated. The following is a report of a member of the original Utah kindred #109, first described in the early 1950's, who was found at autopsy to have bilateral adrenal adenomas. A review of the literature resulted in the identification of six cases with adrenal adenomas and one with a primary adrenal carcinoma. The association with the syndrome of these adrenal tumors, as well as other endocrine tumors, especially thyroid tumors, is discussed.
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
Authors: Kamp J. J. P. VAN DE , Niermeijer M. F. , Figura K. VON , Giesberts M. A. H.
Published: July 2010

A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed earlier onset with more severe clinical manifestations and an earlier age at death. Sanfilippo C disease was slightly less severe than Sanfilippo A disease. The intratype variability may be explained in part by differences in genetic and environmental background. In Sanfilippo B disease, genetic heterogeneity is suggested by the observation of a more severe and a mild variant, and this variation may be due to the involvement of different allelic mutations. The intra‐familial variability of the different types was small, but in three families with Sanfilippo B disease intrafamilial variability was evident.
Histidinaemia in Sweden
Authors: Aim J. , Holmgren G. , Larsson A. , Schimpfessel L.
Published: July 2010

Histidinaemia screening was included in the epidemiological survey of the Swedish neonatal screening programme, 1971‐72. Dried blood samples on filter paper collected neonatally from 171,000 infants were analysed by the Guthrie method. A blood histidine level above 0.96 mmol/l (15 mg per 100 ml) was regarded as a positive test and was found in 639 infants – i.e., 1/270. No further diagnostic measures were taken until 1977 when stored dried blood samples from 273 infants with a positive screening test were analysed for urocanic acid. Four children had undetectable blood urocanic acid. They were studied and histidinaemia was confirmed in two children, and excluded in two. Both histidinaemic children had normal psychomotor development at 7 years of age, in spite of the fact that no dietary treatment was given. The incidence of histidinaemia in Sweden was estimated as 1/37,000, on the basis of neonatal screening. In addition, histidinaemia was diagnosed in four individuals who were not detected in the neonatal screening programme; of these, only one had an IQ less than 85. At present, general neonatal screening for histidinaemia in Sweden does not seem justified.
Three distinct types of X‐linked arthrogryposis seen in 6 families
Authors: Hall J. G. , Reed S. D. , Scott C. I. , Rogers J. O. , Jones K. L. , Camarano A.
Published: July 2010

Six families with arthrogryposis (congenital contractures) inherited in an X‐linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X‐linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X‐linked recessively inherited arthrogryposis are described: (1) Severe lethal X‐linked arthrogryposis with severe contractures, scoliosis, chest deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X‐linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X‐linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).
Twins discordant for Down's syndrome
Authors: Benke Paul J.
Published: July 2010

An anterior twin with trisomy 21 at the time of amniocentesis was posterior at the termination of the pregnancy. Reversal of position must be considered in twin fetuses discordant for a genetic disorder.
Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
Authors: Regenbogen Lucian , Godel Victor , Goya Viorica , Goodman Richard M.
Published: July 2010

A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.
HLA antigens, psoriasis and acute anterior uveitis in Bechterew's syndrome (ankylosing spondylitis)
Authors: Møller Pål , Vinje Odd , Berg Kåre
Published: July 2010

One hundred and twenty‐two consecutively hospitalized patients with ankylosing spondylitis (AS) were reexamined. Ninety‐two per cent were HLA B27 positive. Of the HLA B27 negative patients, 60% were found to have psoriasis, as opposed to 11 % of the HLA B27 positive patients. Acute anterior uveitis (AAU) was found only in HLA B27 positive patients, and more frequently in males than in females. The genetic and clinical heterogeneity of AS, together with the overlapping clinical criteria for AS and psoriatic spondylitis, may make the term “Bechterew's syndrome” preferable. Based on these findings and previous reports, we conclude that (i) AAU is a manifestation of Bechterew's syndrome in HLA B27 positive patients, (ii) HLA B27 negative patients without any obvious accompanying manifestations may suffer from psoriatic spondylitis, and (iii) genetic predisposition to psoriasis in persons who are HLA B13, B17 and B37 negative, may interact with the genetic predisposition to Bechterew's syndrome in HLA B27 positive persons and produce Bechterew's syndrome with psoriasis or psoriasis‐like skin eruptions.
Cytogenetic screening of a new‐born population
Authors: Hansteen Inger‐Lise , Varslot Kirsten , Steen‐Johnsen Jon , Langård Sverre
Published: July 2010

Chromosomes were analysed using banding techniques in 1830 consecutively born infants. The prevalence of chromosomal aberrations was 19.67 per 1000, which is higher than figures found in previous cytogenetic surveys using conventional staining (8.34 and 5.75 per 1000 in a Danish and a combined survey, respectively). The use of banding techniques may explain the higher rate of detection of chromosomal variants in the present study. This is illustrated by the findings of 7.10 autosomal inversions per 1000 compared to 0.13 in a combined survey, and Y chromosome inversions of 3.14 compared to 0.26 per 1000. A prevalence of 2.73 balanced reciprocal translocations per 1000 was found, involving chromosomes 1,2, 3, 9, 11, 13, 16 and 22, which all belong to a group of ten chromosomes with the highest number of spontaneous breaks in the study of Aymé et al. (1976). Fourteen infants were found to have chromosomal mosaicism, and three of them were defined as real mosaics. With the increasing concern about the effect of environmental toxicants, it is of interest to keep a record of aberrant cells in presumably karyotypically normal newborns for possible use in future epidemiological surveys.
Autosomal dominant polycystic liver disease: a second family
Authors: Berrebi Gabriel , Erickson Robert P. , Marks Byron W.
Published: July 2010

An autosomal dominant pattern of transmission has been established for polycystic kidney disease. The degree of cystic involvement of other organs has been variable. The genetic pattern of transmission of polycystic liver disease independent of cystic kidney disease has never been established. We present a second family with polycystic liver disease without kidney disease. The lack of renal cysts is unlikely to be due to variable expressivity and penetrance of the gene for polycystic kidney disease. The liver cysts may be of late onset since none of the proband's four children demonstrate cysts. Alternatively, none of these four individuals may have received the gene for polycystic liver disease from their affected mother. The family described supports an autosomal dominant pattern of inheritance for polycystic liver disease.
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel‐Manzke syndrome. A case report and review of the literature
Authors: Sundaram V. , Taysi K. , Hartmann A. F. , Shackelford G. D. , Keating J. P.
Published: July 2010

Mandibular hypoplasia, glossoptosis, U‐shaped cleft palate (Pierre Robin anomaly), associated with bilateral index finger malformation and congenital heart disease are described in a male, newborn infant. Review of the features of seven previously published patients, in addition to the patient reported here, confirms the existence of a distinct dysmorphogenesis syndrome. Although all of these eight patients have been males, and most were sporadic, the etiology of this rare malformation syndrome is unknown.
Ivemark syndrome in siblings
Authors: Hurwitz Raye C. , Caskey C. Thomas
Published: July 2010

A family in which two brothers have the lemurs syndrome is reported, thus bringing to eight the total number of families reported with multiple affected siblings. Study of 4059 autopsies, performed over 21 years at a major pediatric referral hospital, identified 32 cases of Ivemark syndrome. All were isolated occurrences in the families. One of six families which provided complete pedigree information was found to be consanguineous. This brings to four the number of reported consanguineous families with Ivemark syndrome. The male excess of affected with Ivemark syndrome is found both for the families with multiple affected siblings and for autopsy‐identified cases. These data suggest a recessive inheritance of Ivemark syndrome with male predisposition.
A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy
Authors: Baraitser M. , Rodeck C. , Garner A.
Published: July 2010

The combination of craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate and beaked nose constitutes a new recessive syndrome which has been diagnosed by fetoscopy.
Familial ectrodactyly and polydactyly: variable expressivity of one single gene ‐ embryological considerations
Authors: Regemorter N. van , Milaire J. , Ramet J. , Haumont D. , Rodesch F.
Published: July 2010

Coexistence of polydactyly and ectrodactyly in a sibship of four children is reported. One boy and one male twin presented polydactyly, the male monozygotic cotwin had a lobster claw deformity of the right foot and the last child, a girl, had absence of the phalanges of the right hand. Embryological explanation of these apparently totally opposed malformations is attempted.
Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type III
Authors: Nilsson Olle , Håkansson Gunilla , Dreborg Sten , Groth Carl Gustav , Svennerhoim Lars
Published: July 2010

A method was developed for the determination of cerebrosides in 1 ml of plasma or 1 ml of packed erythrocytes. At least 90% of the cerebroside fraction consisted of glucosylceramide. In the erythrocytes, nothing but glucosylceramide was identified. The method was applied to plasma samples from 25 controls, 34 Gaucher Type III obligate carriers, 16 Gaucher Type III patients, 7 Gaucher Type I patients and 7 patients with myelogenous or lymphatic leukemia, as well as to erythrocyte samples from 20 controls, 6 Gaucher Type III obligate carriers, 16 Gaucher Type III patients and 6 Gaucher Type I patients. The concentration of plasma cerebroside was 11.4±4.2 (S.D.) in controls, 11.8 ± 2.6 in Gaucher Type III carriers, 30.4 ± 7.7 in Gaucher Type III patients and 21.8 ± 6.7 μmol/l in Gaucher Type I patients. The Gaucher patients had Significantly increased (p <0.001) plasma cerebroside values, while the plasma cerebroside concentration of the leukemic patients was only slightly increased, 14.7 ± 5.7 μmol/l. In the packed erythrocyte pellet the corresponding values were: Controls 2.9 ± 0.7, Gaucher Type III carriers 2.9 ± 0.7, Gaucher Type III patients 9.2 ± 2.4 and Gaucher Type I patients 6.5 ± 2.7 μmol/l. The phospholipid concentration was the same in all the three Gaucher groups and was not significantly different from that in the controls.
Schizophrenia and suicide in a North Swedish isolate, 1890–1980
Authors: Böök Jan A. , Modrzewska Krystyna
Published: July 2010

The epidemiological and genetic investigation of schizophrenic psychoses over the period 1900–1978 which has been carried out in a specified North Swedish geographical isolate was supplemented with a study of suicides. For the period 1890–1980, a total of 90 suicides have been ascertained. Of these, 54 had at least one schizophrenic relative at a maximum genetic distance of 1/8, while 11 had schizophrenic relatives further removed. It is likely that at least some of these suicides were manifestations of acute and/or undiagnosed psychoses. Thus the previously reported high general morbid risk of schizophrenia in this population (2.7%) would be a rather conservative estimate. On the other hand, the findings would not appreciably change the morbid risk for first‐degree relatives of schizophrenic probands.
Mosaic tetraploidy in a male neonate
Authors: Veenema H. , Tasseron E. W. K. , Geraedts J. P. M.
Published: July 2010

Though complete and mosaic tetraploidy in zygotes almost always leads to abortion early in pregnancy, some cases have been described in which development was more successful. We report a male neonate with microcephaly and various other anomalies, in whom tetraploidy was found in 16% of peripheral lymphocytes.
NADH dehydrogenase in cystic fibrosis
Authors: Sanguinetti‐Briceno Nelson R. , Brock David J. H.
Published: July 2010

It has been claimed that the pH profile of mitochondrial NADH dehydrogenase in cultured skin fibroblasts can be used to distinguish cystic fibrosis homozygotes, heterozygotes and normal controls. This phenomenon has been examined in more readily accessible white blood cell preparations. The relative changes of activity of white cell NADH dehydrogenase in phosphate buffer at pH 8.0,8.3 and 8.6 were too small and too random to be useful in identifying the genotype of the donor.
Metacarpophalangeal pattern profile analysis in Prader‐WiIIi syndrome
Authors: Butler Merlin G. , Kaler Stephen G. , Yu Pao‐lo , Meaney F. John
Published: July 2010

Metacarpophalangeal pattern profile (MCPP) was determined on 16 Prader‐Willi patients. Chromosome analysis of 14 patients showed an interstitial deletion of the long arm of chromosome 15 in seven subjects and normal chromosome results for the remaining individuals. Two separate and distinguishable hand profiles for each group based on the chromosome findings were identified. Correlation studies confirmed the homogeneity of the chromosome deletion group relative to the Prader‐Willi individuals with normal chromosomes. Discriminant analysis of Prader‐Willi versus normal individuals produces a function of three MCPP variables plus age which may provide a useful tool for diagnosis.
Trisomy 18 mosaicism: Clues to the diagnosis
Authors: Bass Harold N. , Fox Michelle , Wulfsberg Eric , Sparkes Robert S. , Crandall BarbaraF
Published: July 2010

Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non‐mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 18, and only normal 46, XY cells were observed, while peripheral blood lymphocytes still demonstrated 47, XY,+18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arches.
Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33
Authors: Tomkins Darrell J. , Hunter Alasdair G. w. , Uchida Irene A. , Roberts Maureen H.
Published: July 2010

A 10‐year‐old boy with developmental delay, craniofacial dy smorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 → qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17‐week‐old girl recently found to have the same deletion. Two additional patients with similar small deletions have been described in the literature. The similarity among the cases suggests the possibility of a deletion (4)(q33) syndrome. The major features of the syndrome are similar to those of larger deletions of the long arm of chromosome 4 and include mental and growth retardation, craniofacial dysmorphia including upslanting palpebral fissues, depressed nasal bridge, anteverted nares, abnormally shaped ears and micrognathia, and cardiac defects.
Four siblings with Robert's syndrome
Authors: Zergollern Ljiljana , Hitrec Vlasta
Published: July 2010

A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.
Prevalence and incidence of muscular dystrophy in Alberta, Canada
Authors: Monckton G. , Hoskin V. , Warren S.
Published: July 2010

This paper describes the prevalence of Duchenne, Becker Type II, limb‐girdle, facioscapulo‐humeral dystrophies and dystrophia myotonia in Alberta, Canada, as of January 1, 1979. Rates established for Duchenne, limb‐girdle, and facio‐scapulo‐humeral dystrophies in 1962 had all been lower. The incidence of each M.D. type is described during 1950–74 by either 5‐ or 10‐year periods and shows consistent declines. Increased prevalence, despite declining incidence, for each of the muscular dystrophies may indicate improved medical care and greater longevity for affected youngsters.
Is there a monosomy 10qter syndrome?
Authors: Mulcahy Marie T. , Pemberton P. J. , Thompson Elizabeth , Watson Marcia
Published: July 2010

A case of terminal deletion 10q25→qter is reported. Comparison of the findings with those noted in the three previously published cases revealed marked clinical dissimilarities and some unusual features not hitherto described.
Hamartomatous dental cusps in hypomelanosis of Ito
Authors: Happle R. , Vakilzadeh F.
Published: July 2010

Multiple dental cusps, protruding from the crowns of both deciduous and permanent incisors, were observed in a 4‐year‐old girl affected with hypomelanosis of Ito. This unusual dental anomaly has been described in one previous report of this neurocutaneous syndrome. In contrast to ordinary talon cusps, the dental outgrowths observed in hypomelanosis of Ito appear to be of hamartomatous origin. Apparently, these dental deformities are characteristic of hypomelanosis of Ito and may help to identify the syndrome in cases where other findings are minimal or atypical.
Lymphocyte proliferation in a 31‐week premature neonate with 69, XXX chromosomal constitution*
Authors: III William B. Pittard , Sorensen R. U. , Stallard Richard
Published: July 2010

The clinical syndrome of triploidy has only recently been described with its phenotypic characteristics emerging from a series of descriptive case reports. This paper describes the mitogen induced lymphocyte proliferative responses of a 31‐week gestation neonate. Similar data, collected simultaneously, from 27 healthy 30–32‐week gestation neonates is also reported for comparison. Since the capability of lymphocytes to become activated is dependent on and indicative of the host's ability to develop a cellular immune reaction, these data indicate no diminution in cell mediated immunity by this polyploid individual.
The Mohr syndrome: are there two variants?
Authors: Haumont Dominique , Pelc Sabine
Published: July 2010

Two female siblings with the oral‐facial‐digital type II syndrome, or Mohr syndrome, presented an associated brain malformation: the Dandy‐Walker syndrome. Up till now, patients with the Mohr syndrome have been considered to be free of mental deficits and/or brain defects. After reviewing the literature and considering the current criteria for OFD type II syndrome, other possible cases of Mohr syndrome associated with brain abnormality are discussed.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs
Authors: Renier W. O. , Nabben F. A. E. , Hustinx T. W. J. , Veerkamp J. H. , Otten B. J. , Laak H. J. Ter , Haar B. G. A. Ter , Gabreëls F. J. M.
Published: July 2010

2Department of Pediatrics, Groot Ziekengasthuis, 's Hertogenbosch, The Netherlands

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in this exceptional family are reported and discussed.
Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16) (p12;q11)
Authors: Nevin N. C. , Coffey W. W. , Nevin J. , Reid M. MCC.
Published: July 2010

Two male infants with almost complete trisomy 16q due to a maternal translocation, are reported. The phenotypic similarities of these patients who had trisomy 16qll‐>16qter and of the eight previously published reports of partial trisomy 16q, were compared.
Y chromosome length related to fetal loss
Authors: Westlake J. R. , Robertson R. , Leddet I. , Funderburk S. J. , Sparkes R. S.
Published: July 2010

The Y/20 ratio (length of Y chromosome/length of chromosome 20) was examined among 216 males, 108 of whose wives had a history of repeated abortions (study group), and 108 who were mentally retarded (controls). There was no significant difference in frequency of long Y (Y/20 equal to or greater than 1) between the study group and controls. Also, there was the expected male: female ratio among normal living children of couples in the study group, and the Y/20 ratio was not significantly increased among fathers with abnormal male offspring. However, wives of long Y males were more likely to have at least one abnormal male birth, compared with other wives (this approached statistical significance, p < 0.08). In addition, a significantly higher frequency of long Y was found in a subset of affected males whose wives had 2 or more spontaneous abortions plus some other abnormal pregnancy outcome. Although the findings reported here do not strongly support a causal relationship, they at least suggest an association between long Y chromosome and abnormal fetal development.
The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance
Authors: VOOREN M. J. VAN DE , NIERMEIJER M. F. , HOOGEBOOM A. J. M.
Published: July 2010

A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was observed, while females show minor signs only. However it is sometimes possible to identify individual females as carriers. The observation of male to male transmission and the absence of symptoms in some daughters of affected male persons suggest a sex‐influenced autosomal inheritance in this family. This may suggest heterogeneity in the Aarskog syndrome, since in most families described an X‐linked recessive mode of inheritance was indicated.
Prader‐Willi syndrome associated with inversion of chromosome 15
Authors: Winsor Elizabeth J. T. , Welch J. Philip
Published: July 2010

A boy with Prader‐Willi syndrome was found to have an inversion of chromosome 15,[46, XY, inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a “position effect” and the etiology of Prader‐Willi syndrome. However, a more complicated explanation is required in view of the cytogenetic findings in the proband's father.
Formal analysis of dysmorphism: Objective methods of syndrome definition
Authors: Preus Marilyn , Aymé Ségolène
Published: July 2010

A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, “blind” as to their karyotype. Techniques of numerical taxonomy were used to classify the patients on the basis of their phenotypic resemblance. As expected, the results confirm strong phenotype‐karyotype correlations. When cytogenetic interpretations are uncertain, the phenotypic findings may confirm or refute the interpretations. The approach has practical implications, providing further knowledge of phenotypic effects of specific chromosomal segments, which will aid cytogeneticists in their search for karyotypic defects. More important, the results also serve as an excellent model for developing strategies for the classification of syndromes of unknown etiology.
Glycinelserine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia
Authors: Mesavage Christine , Nance Carol S. , Flannery David B. , Weiner Debra L. , Suchy Sharon F. , Wolf Barry
Published: July 2010

A series of 183 amniotic fluid samples from pregnancies with normal outcome were examined to assess the validity of the glycine/serine ratio in the prenatal diagnosis of nonketotic hyperglycinemia. The glycine/serine ratios in our series span a range of values which includes those of the previously reported control group as well as those values of a fetus with nonketotic hyperglycinemia. These data indicate that the glycine/serine ratio in the amniotic fluid of a pregnancy at risk for nonketotic hyperglycinemia is not a reliable indicator for the prenatal diagnosis of this disorder.
A lethal neonatal variant of carbamoyl‐phosphate synthetase deficiency in combination with an intermediate activity of L‐ornithine: 2‐oxoglutarate amino‐transferase
Authors: Heiden C. Van Der , Beemer F.A. , Dijk H.A. van , Desplanque J. , Gerards L. J.
Published: July 2010

Shortly after birth, a newborn girl developed anorexia, hypotonia, apneic attacks and seizures. After 61 h the child died in coma. Biochemically, a highly elevated blood ammonia level was found together with an increased plasma level of the amino acids mainly involved in ammonia detoxication. Enzyme studies in post‐mortem liver tissue material revealed a deficiency of carbamoyl‐phosphate synthetase (0.9% of the mean value in controls) in combination with an intermediate activity of L‐ornithine: 2‐oxoglutarate aminotransferase (40% of the mean value in controls).
Fetal ABO blood group typing using amniotic fluid
Authors: Teichler‐Zallen Doris , Doherty Richard A.
Published: July 2010

Amniotic fluids (AF) obtained by second trimester amniocentesis were examined using a hemagglutination‐inhibition test. In the anti‐A and anti‐B dilution series three different patterns of agglutination were found. One pattern, indicating the presence of high levels of antigen, is typical of secretors (Se/‐) of the blood group antigen. The second pattern is indicative of total absence of soluble antigen and is produced in secretor (Se/‐) and non‐secretor (se/se) fetuses lacking the IA or IB allele at the ABO locus. The third pattern shows the presence of trace amounts of soluble antigen, about one‐tenth of that found in secretors, and it appears in non‐secretor fetuses bearing the corresponding ABO allele. These trace quantities, if a constant feature of AFs from these non‐secretor fetuses, could allow blood group typing information to be obtained on all non‐secretor as well as secretor fetuses.

A total of 157 amniotic fluid samples were surveyed in this and a previous study. Of these, 31 were from non‐secretor fetuses. Blood group type for the 31 non‐secretor fetuses was predicted (“blindly”) on the basis of the presence or absence of trace amounts of soluble antigen. These predictions were verified by standard ABO typing of the infants afterbirth. In each case the (“blind”) typing result agreed with the predictions made from the titration curves. This agreement establishes that the production of trace amounts of soluble antigen(s) is a consistent feature of non‐secretors with the IA and/or IB allele. The soluble blood group substances are of fetal origin and are independent of maternal blood type and secretor status. Type O non‐secretors produce no soluble A or B antigen and also lack detectable soluble H antigen. Thus it appears that the nature of the detectable amounts of soluble blood group antigen(s) present in second‐trimester AF can be used to accurately assess the ABO blood type of all fetuses.
Heterogeneity in mucolipidosis II (l‐cell disease)
Authors: Okada Shintaro , Kato Tomochika , Oshima Toshio , Yutaka Tohru , Yabuuchi Hyakuji
Published: July 2010

Normalization of multiple deficiency of intracellular lysosomal hydrolases in I‐cell disease (ICD) fibroblasts by sucrose loading has been reported (Kato et al. (1982) J. Biol. Chem. 257, 7814). Further studies revealed that the effects of sucrose on the induction of hydrolases in seven ICD strains examined in this study were characteristic in each strain. The results may indicate that ICD strains can be classified into subgroups by the degree of enzymic induction. Moreover, this speculation seems to be supported by the normalization of electrophoretic patterns of β‐hexosaminidase in ICD fibroblasts after sucrose loading.
Fetoscopic photography
Authors: Schwartz David B. , Donovan Debbie
Published: July 2010

Fetoscopic visualization may be used for the prenatal diagnosis of external structural malformations of the fetus. Objective documentation of these fetoscopic findings would be desirable. The photographic equipment and techniques required for fetoscopic photography have been investigated, and the results of these investigations with standard fetoscopic instruments in current clinical usage are described. The factors evaluated include the light source, camera equipment, camera settings and film.
Interstitial deletion in the long arm of chromosome no. 5
Authors: Harprecht‐Beato W. , Kaiser P. , Steuber E. , Reinhard W.
Published: July 2010

A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q.
A linkage study of the HLA region using C‐band heteromorphisms
Authors: Polacek Laurie A. , Phillips Ruth B. , Hackbarth Susan A. , Duquesnoy Rene J.
Published: July 2010

A linkage study was performed to establish the map distance from the HLA region to the centromere on 6p. In this study, seven families were investigated for the segregation of their HLA types and a polymorphic C‐band marker on chromosome 6. Four out of 29 children were found to be recombinants. A map distance of 14 cM was determined. Ninety‐five percent confidence limits for the recombination frequency were established (0.012 ≤θ≤ 0.263).
Partial trisomy 2q
Authors: Schumacher Robert E. , Rocchini Albert P. , Wilson Golder N.
Published: July 2010

An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.
Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting
Authors: Jongkind Johan F. , Verker Anton , Niermeijer Martinus F.
Published: July 2010

Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACSII). The α‐galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in the carriers, one showing an α‐galactosidase‐A activity comparable to that of Fabry patients, and another with normal α‐galactosidase‐A activity. This provides evidence of X‐inactivation at the α‐galactosidase‐A locus. Since X‐inactivation occurs at random, a high number of single cells has to be assayed to increase the clinical reliability for carrier detection. The methodology as presented enables such an approach.
Silent microcephaly: A distinct autosomal dominant trait
Authors: Ramíez M. L. , Rivas F. , Cantú J. M.
Published: July 2010

Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male‐to‐male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogeneity.
Cytogenetics of recurrent abortions
Authors: Lyberatou‐Moraitou E. , Grigori‐Kostaraki P. , Retzepopoulou Z. , Kosmaidou‐Aravidou Z.
Published: July 2010

G‐banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46, XX, t(2;10), 46, XX, t(6;II), 46, XY, t(6;10), 45, XY, t(13;14), 45, XY, t(13;14). 45, XY, t(14;21). Another woman had an abnormal karotype 46, XX/47, XXX and a man had a pericentric inversion of chromosome 1; six other men and two women had pericentric inversions of chromosome 9.
Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three‐generation family study
Authors: Ceder Ove , Hösli Peter , Vogt Esther , Kollberg Hans
Published: July 2010

The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and a‐mannosidase, is reported. The residual activities at 36.5°C and 41.3°C were below 10% of the activity in unheated samples for homozygotes, 4&50% for heterozygotes and above 90% for normals. The intracellular alkaline phosphatase and extracellular β‐hexosaminidase activities after treatment with heparin and gammaglobulin were 500% and 200%, respectively, of the activities without this treatment in CF homozygotes, whereas for heterozygotes and normals the values were the same after treatment as before. Pedigrees of four CF families, covering 2–3 generations, are presented. The possible use of these tests as diagnostic tools is further discussed.
Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome?
Authors: Fitzsimmons J. S. , Fitzsimmons E. M. , McLachlan J. I. , Gilbert G. B.
Published: July 2010

We report a Caucasian family in which four males out of a total of seven siblings are mentally retarded. Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes caws deformity of both feet and an abnormal gait. In addition, they show palmar and plantar hyperkeratosis. The other male sibling does not have spasticity, but his lower limb reflexes are abnormally brisk and he has slight pes cans deformity. He also shows hyperkeratosis of his palms and soles and is less mentally retarded than his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters are normal. The pedigree information is compatible with a sex‐linked mode of inheritance and no specific biochemical or cytogenetic abnormality has been found in the affected individuals. There have been no previous reports of hyperkeratosis palmaris et plantaris in other inherited spastic syndromes.
Marker X‐associated mental retardation A study of 150 retarded males
Authors: Kähkönen M. , Leisti J. , Wilska M. , Varonen S.
Published: July 2010

One hundred and fifty male patients with mental retardation of unknown origin were studied cytogenetically. Six patients (4%) were: marker X‐positive. All these index cases were found in a subgroup of patients with no dysmorphic features, significant neurological findings or childhood psychosis. In this subgroup the frequency was 8.8%. One of the index cases had a family history suggestive of X‐linked mental retardation, four had retarded 1st degree relatives and one had no family history of mental retardation.
Aspartylglucosaminuria in the United States
Authors: Hreidarsson Stefan , Momas George H. , Valle David L. , Stevenson Roger E. , Taylor Harold , McCarty Joseph , Coker Steven B. , Green William R.
Published: July 2010

Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in nowFinnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.
Gentics and linkage relationships of the C3 polymorphism: discovery of C3‐Se linkage and assignment of LES‐C3‐DM‐Se‐PEPD‐Lu synteny to chromosome 19
Authors: Eiberg H. , Mhore J. , Nielsen Staub , Simonsen N.
Published: July 2010

The C3 complement system was examined in our Danish material of normal families, which had earlier been examined for 59 marker systems, and in a myotonic dystrophy family material. A total of 8 alleles were recognized, with allele frequencies as follows: C3*S = 0.7902, C3*F = 0.2018, C3*S rare (3 lumped together) = 0.0036, C3* F rare (2 lumped together) = 0.0024; a silent allele was recognized in three families and its frequency to C3*QO = 0.002. The distribution of unrelated inviduals did not deviate significantly from the Hardy‐ Weinberg expectation, it was not siginicantly different between the sexes, and the for none of the mating types was there any significant deviation from the expected ratios of children.

As to linkage relationships of C3 with market systems and with myotonic dystrophy, there was evidence (most of it first presented at the 6th International Congress of Human Genetics, Jerusalem 1981) for synteny with ABH secretion (Se): C3‐Se (males) ẑ= 4.35, θC = 0.12 and with Lewis secretion (LES): C3‐LES (males ẑ= 3.63, θC = 0.04). There were indicative or suggestive lod scores for Se‐PEPD (males & females ẑ= 2.41, θC = 0.00), C3‐Lu (ẑ= 1.88, θC = 0.15), C3‐DM (ẑ= 1.69, θC = 0.06) and PEPD‐C3 (male ẑ= 0.95, θC = 0.17). The most likely sequence of these 6 systems would appear to be LES‐C3‐DM‐(Se‐PEPD)‐Lu and the synteny would reside on chromosome 19.
Is there a predisposition for meiotic non‐disjunciton that may be detected by mitoitc hyperploidy?
Authors: Staessen C. , Maes A. M. , Kirsch‐Volders M. , Susanne C.
Published: July 2010

The aneuploidy frequencies have been stuided in vitro in lymphocytes from couples with recurent abortions, from parents of a trisomic child and from control couples with at least two normal children; c‐heterochromatin variants have been analysed on the same samples by length measurements.

A significant increase of hyeperploid cells has been observed in the lymphocytes from parents of a trisomic and couples with recurrent abortions as well. However, no consistent correlation has been found so far between c‐heterochromatin varients and an increase of aneuploidy.