摘要:

AbstractA minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low‐set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocatio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380102

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on 4 persons in a 3‐generation Brazilian family presenting the nail‐patella syndrome. Cleft lip/palate in one patient and antecubital pterygium in 3 of the reported patients are unusual findings related to this condit

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380103

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

年代:1991

数据来源: WILEY

摘要:

AbstractA male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypo‐plastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expressio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380104

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

年代:1991

数据来源: WILEY

摘要:

AbstractA multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy‐proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involve

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380105

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

年代:1991

数据来源: WILEY

摘要:

AbstractRoberts‐SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre‐and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell‐division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380106

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

年代:1991

数据来源: WILEY

摘要:

AbstractA term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low‐set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380107

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe describe complete cutaneous syndactyly of all fingers and polydactyly in a 2‐month‐old girl. Based on 3 previous reports, this constitutes a separate entity (McKusick 18620) with probable autosomal dominant inherita

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380108

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

年代:1991

数据来源: WILEY

摘要:

AbstractJuvenile myoclonic epilepsy (JME) is a generalized, non‐progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks. Greenberg et al. (American Journal of Medical Genetics31:185–192, 1988b;Cytogenetics and Cell Genetics51:1008, 1989b) reported tight linkage of a JME locus to the HLA region of chromosome 6p. We confirm this linkage assignment, although at a larger recombination fraction than previously reported.Twenty‐three, mostly nuclear, families were ascertained through a JME proband. The affected status of relatives of the probands was assigned by 4 different clinical criteria, and separate analyses were done assuming an autosomal dominant model with 90% penetrance and an autosomal recessive model with full penetrance. A linear age‐of‐onset correction with maximum penetrance at age 20 years was incorporated into the analyses. The maximum lod score obtained was 3.11 at Θm= 0.001, Θf= 0.20, assuming autosomal dominant inheritance and using the second definition of the disease phenotype. There was strong support for linkage using the other phenotype definitions and the autosomal dominant model, although the lod scores did not exceed 3.0. There was also support for linkage of a JME locus to this region under the autosomal recessive model, although the results varied depending upon the definition of the disease phenotype. There was no significant evidence for linkage he

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380109

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on an 11‐year experience in which cell culture synchronization and other methods for improving cytogenetic detail were used to study 2,245 patients presenting with malformations and (usually) developmental delay. Not including patients presenting with one of the so‐called “contiguous gene syndromes,” 30 patients (1.1% of the study population) were found to have karyotypes characterized by structural alterations that were either subtle enough to be judged undetectable in standard metaphase preparations or subtle enough to have escaped detection in previous banded studies. Analysis of the detail available for 6 chromosome pairs suggests that the average banding detail available for these analyses fell short of that considered to be “high‐resolution” but was, nevertheless, more than would have been expected from standard metaphase

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380110

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

年代:1991

数据来源: WILEY

摘要:

AbstractWidespread epiphyseal stippling was demonstrated radiologically during the early months of life in 7 children with acrodysostosis. This finding, which does not seem to have been previously documented in this disorder, is important in the differential diagnosis.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380111

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

年代:1991

数据来源: WILEY