摘要:

A follow‐up study of clinical and genetic observations, made on patients with hereditary palmoplantar keratoderma living in the northernmost county of Sweden (Norrbotten) in 1967, was performed. Two clinical types could be distinguished, a common form with an autosomal dominant mode of inheritance, corresponding to the description of the Unna Thost variety and a severe form with evidently an autosomal recessive inheritance. One of the patients with the severe form had a multilating palmoplantar keratoderma. Neither employment nor dermatophytosis influenced the severity of the hyperkeratosis in any of these two types. Occurrence of hereditary palmoplantar keratoderma together with other genodermatoses or dermatoses with a polygenic mode of inheritance was also found in this stud

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02208.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A new multifacetted syndrome inherited as an autosomal, dominant trait is described encompassing not only two hitherto undescribed hereditary defects ‐ thrombocytopathia and asplenia ‐ but also muscle contractile defect, migraine‐like headache, miosis, dyslexia and ichthyosis. None of these defects has so far been assigned to a specific chromosome or linkage group. Further studies on the various aspects of the syndrome are in pro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02209.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

This report describes an adult male with a partial trisomy 6p(p211‐pter) and a partial monosomy 9p(9p24‐pter) resulting from ade novounbalanced translocation. This patient does not show the classical features of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs not previously reported as part of the 9p monosomy or 6p trisomy syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02210.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Major histocompatibility complex (MHC) haplotypes, includingHLA‐A, ‐B, ‐Cand‐DRand complotypes(BF, C2, C4AandC4B)were determined in a large family with inherited C4 deficiency. The propositus, a 12‐year‐old girl with complete C4 deficiency and SLE, had the MHC haplotypesHLA‐A2,‐Cw3,‐B40,‐DR6, BFS, C2C, C4AQO, C4BQOinherited from her father andHLA‐A30, ‐B8, ‐DR3, BFF1, C2C, C4AQO, C4BQOfrom her mother. These haplotypes were identified in several of the healthy relatives, who were thus shown to be carriers of C4 deficiency. Most of the other haplotypes found in the family were not considered to be unusual in the general population. The complete absence of C4 in the patient was confirmed by studies of Chido and Rodgers antigens in the plasma and on the erythrocytes, the absence of plasma C4d fragments and by studies of C4 chain antigens by immunoblotting technique. The results of the genetic analysis, together with the findings in other cases of C4 deficiency, supports the possibility that complete C4 deficiency in itself predisposes to development of SLE without contribution o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02211.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A mentally retarded man with congenital malformations, carrying a tandem duplication of 10(q21‐q22) is reported. The clinical picture is compared with the description of previously reported cases and the possible origin of the aberrant chromosome is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02212.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02213.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02214.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02215.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02216.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY