摘要:

A tandem duplication of region 15(q21‐qter) occurredde novoin a mosaic infant with the following features: facial dimorphism with very small palpebral fissures, large prominent nose, micrographic, edematous hands and feet, short stubby fingers, muscular hypotonia and convulsive seizure

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01401.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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 predispositio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01402.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01403.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A familial 13p;lSq translocation was ascertained through a mentally retarded boy with a proximal trisomy 15 syndrome. His mother, who was a balanced 13p;15q carrier, had in addition a legal abortion after 22 weeks of gestation because of a prenatal diagnosis of distal trisomy 15 in a male foetus. Her mother and two sisters, who were balanced carriers, all had children with either a normal karyotype or a balanced translocation or had had pregnancies resulting in an early spontaneous abortion.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01404.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Catechol‐O‐methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01405.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

In cultured fibroblasts of adrenoleukodystrophy (ALD) patients and most heterozygotes, concentrations of long‐chain fatty acids (>C22) were significantly higher than in controls when cells were assayed 45 days after reaching confluence. Intermediate values were found in three independent cultures of a girl with manifest ALD, suggesting that a significant proportion of her fibroblasts does not express the defect. Though long‐chain fatty acid concentrations in heterozygotes were somewhat higher than expected, suggesting a slight preponderance of defective cells, it may be too early to conclude that somatic selection is a consistent finding in cultured fibroblasts of ALD carri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01406.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A chromosome abnormality, 46, XY, lp +, was detected in cultured amniotic fluid cells. The chromosomes of both parents were normal and it was impossible to recognise the extra chromosomal material using current banding techniques. The activity of acid a‐glucosidase was found to be consistently higher than controls whereas activity of several other lysosomal enzymes, galactokinase and thymidine kinase was not. The results suggest that the extra material is that part of the long arm of chromosome 17 bearing the gene for acid a‐glucosidase but not the genes for galactokinase and thymidine kinase. This would narrow the assignment of the acid α‐glucosidase locus to 17q2 2

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01407.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A previously unpublished association of retinoblastoma and histiocytosis‐X is described in a girl. In addition, chromosome analysis revealed a mosaicism of normal and abnormal mitoses. A deleted D‐group chromosome (13q14‐q31) was pr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01408.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Two unrelated patients are described with congenital short‐limbed dwarfism, lax joints, occasional dislocations, and developmental delay (especially in language). Although these patients have some features of the Larsen syndrome, they appear to be distinct and resemble one previously reported sporadic patient, also thought to be distinct from Larsen syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01409.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01410.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY