摘要:

AbstractWe report on a form of multiple epiphyseal dysplasia with striking acromelic shortness in a woman and five of her ten children. The somatometric and metacarpo‐phalangeal pattern profile of the affected individual showed short limb dwarfism and shortness of all the tubular bones of the hand. Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding. The disorder showed a dominant and probably autosomal pattern of inheritance with variability of expression.The measurement of metacarpo‐phalangeal profiles allowed an objective and quantitative assessment of brachydactyly. In the family reported here, there was a clear discrepancy between the severity of shortness of hands and feet and the severity of shortness of stature. This family also illustrates the effects of a single gene in a large kindred, therefore describing the range and variability of a phenotype not otherwise availa

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe analysis of the data on 5677 children of 1063 couples from a fourth sample of consanguineous and nonconsanguineous marriages among whites and nonwhites living in the State of Minas Gerais, Brazil led to the following estimates: B (number of abnormal equivalents per gamete) around 0.5; A (morbidity in the non‐inbred subsamples) 2–3 percent; B/A 13, 15, and 27 (this suggests that the morbidity disclosed by inbreeding may predominantly represent a mutational load): RR ( relative risk) about 2 (this means that among the children of consanguineous marriages there is about double the frequency of abnormalities than in those with nonconsanguineous marriages); AR (attributable risk) for the whole sample about 7% (5% for nonwhites and and 15% for whites). These last valuse show the amount that the frequency of abnormalities would decrease in the population in the risk factor (consanguineous marriages) would be eliminated. AR is higher in whites because the frequency of the risk factor is higher among whi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe describe a patient with partial deletion of the short arm of chromosome 8 with an atrio‐ventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with e congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioven‐tricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomal

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractOverweight patients with Ullrich‐Turner syndrome (UTS) and control children with similar weight/height and indices of overweight were studied to clarify the unique fat distribution in the syndrome. Triceps and ulnar skinfold thickness (SFT) in UTS patients was significantly less than that of obese children without the syndrome. The means of SFT at the subscapular and paraumbilical regions were also less in the patients than control girls, though significance was not documented. Thus, increased body weight in UTS children seems mainly to be due to excess of adipose tissue, not in the limbs but on the trunk, and/or due to the increment of lean body mas

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a “new” MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X‐linked recessive

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe analyzed DNA samples taken from 95 Duchenne muscular dystrophy (DMD) patients belonging to 90 different families in Japan using the polymerase chain reaction. Ten different regions at the 5′ end or in the central region of the dystrophin cDNA gene that were previously shown to be prone to deletion were selected for amplification and analysis. Patients in 36 of the 90 families (40%) had deletions in at least one of these segments of the gene. Identical deletions were detected in the dystrophin gene of patients from the same family. The deletions were heterogeneous in size and location. One patient had deletions in 7 of the 10 amplified regions, while 19 patients from 18 families had a deletion in only one of the regions studied. Deletions at the 5′ end were generally larger and more heterogeneous than those in the central region of the gene. One third of deletions had their proximal end breakpoints between exons 44 and 45. This region seems to be particularly vulnerable to gene breakage in DMD patie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe cause of hemifacial microsomia (HFM) is currently the subject of much investigation. Despite a large body of clinical and experimental data, little is certain other than the heterogeneity of this malformation complex. Here we suggest that some of the cases previously designated as being multifactorial in origin may be interpreted instead as resulting from a single‐gene mutation, by applying a stochastic single‐gene model. A variety of models of the pathogenesis of HFM have been described, including the proposal that local embryonic haemorrhage is a causal mechanism. More recently, it has been suggested that an interference in chondrogenesis is primarily responsible for the HFM phenotype. In this paper direct experimental evidence, based on surgical interference of mandibular development in the chick embryo, is applied in favour of the latter concept. In particular, asymmetrical perturbation of Meckel's cartilage has been shown to result in asymmetry of the mandible, and it is proposed that, irrespective of cause, the skeletal pathogenesis of HFM primarily involves the auriculofacial cartilage mo

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed “new” autosomal recessive syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY