摘要:

A simple, rapid test has been developed for heterozygous carriers of the mutant gene responsible for the Lesch‐Nyhan syndrome. The test is based upon the ability of cultured skin fibroblasts to incorporate14C‐adenine following exposure to the purine analogue 8‐azaguanine (8AG). Heterozygous cultures had an intermediate level of resistance to the inhibitory action o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01637.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

A new method of length analysis is used to assign deleted B chromosomes to either pair 4 or pair 5. The implications of this assignment are discussed with reference to problems of homology and the diagnosis of the cri‐du‐chat syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01638.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Three independent families showing X‐linked recessive inheritance of a rare form of cerebellar ataxia are presented. The disease is clinically distinct from both Friedreich and Marie ataxias. The age of onset is between 16–21 years and the course is progressive until the age of 30 when further deterioration is arrested. The manifestations are predominantly cerebellar with minimal pyramidal and no posterior column affection. Intellectual functions remain unimpaired. A case of female Turner's who is also a victim of this disorder is presen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01639.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Ten members of two families with D/G translocation, three members of a family with D/D translocation, and one patient with non‐familial and one with apparently non‐familial D/D translocation were examined. The trdnslocation chromosomes were identified by SH‐thymidine labeling and autoradio‐graphy as 14q21q and 13q14q, respectively. These findings support the hypothesis of nonrandomness of D group chromosomes involved in centric‐fusion translocation. The importance of the identification of Dgroup chromosomes involved in centriofusion translocation in relation to genetic counseling is

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01640.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY