摘要:

Flat agarose gel electrophoresis and autoradiography were used to analyze HPRT and APRT activity in individual hair roots collected from the scalps of females to determine the presence of HPRT‐deficient cells. Autoradiographs of hair‐root lysates of normal homozygous females contained two well‐separated dark zones representing HPRT and APRT activities. In contrast, some hair roots from carriers of HPRT deficiency contained two zones of activity with the same relative proportion of APRT and HPRT as hair roots of normal homozygotes, while others contained decreased amounts of HPRT activity. These hair roots consisted of HPRT+ and HPRT‐cells. In addition, some hair roots from heterozygous carriers contained APRT but no HPRT activity. Such hair roots consisted of HPRT‐ c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00166.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Four new cases of the Wolf‐Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf‐Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p‐, 18p‐, 18q ‐). Analysis of data on some “new” deletion syndromes (4q ‐, 8p‐, 9p‐, 10p‐, 11p ‐, 11q ‐) revealed that 14.5% were inherited cases. Thus, all human autosomal deletions have virtually

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00167.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A Danish pedigree with olivo‐ponto‐cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty‐nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical features varied greatly, and many types of here do familial ataxia had previously been assigned to the family members. Ten had been diagnosed as having multiple sclerosis (MS), although symptoms typical of MS, such as paresthesias, mental disturbances and optic atrophy were extremely uncommon. The variations in the clinical picture show that the manifestations of a single dominant gene may appear to mimic different clinical entities unless the genetic evidence is taken into ac

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00168.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Spina bifida represents a broad category of neural tube defects (NTD) which affects approximately 1–4/1,000 live births. Since effective prenatal diagnostic testing for 90 % of NTD is available through measurement of alpha‐fetoprotein (AFP) in amniotic fluid, ascertainment of high risk factors associated with the occurrence of NTD would be both desirable and important. At the present time, generally, the major indication for prenatal testing for NTD is the presence of a first‐degree relative with some form of NTD. To date, few other factors have been utilized to identify a family as “at risk”.We have studied a group of 19 families of 10 female and 9 male index cases with NTD. The parents of each index case were interviewed and pedigrees were prepared on each family. Conditions screened for in these families included spina bifida and other NTD, pilonidal cysts, scoliosis, kyphosis and other vertebral disorders which were hypothesized to be possibly related to NTD. There were 58 first‐, 171 second‐, and 802 third‐degree relatives screened in this study. This sample population was similarly characteristic with regard to sex, maternal age and birth order distributions as compared to previous populations of NTD described and was therefore considered to be representative. Our results indicate that: (1) pilonidal cysts are 6 times more frequent in the fathers and twice as frequent in the mothers of children with spina bifida than in the general population;These preliminary studies suggest that several minor clinical conditions in parents may be important to consider as possible risk signs suggesting couples be considered for prenatal evaluation for the pr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00169.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

On the basis of clinical data, it had previously been proposed that the Forsius‐Eriksson syndrome is identical to Nettleship‐Falls X‐linked ocular albinism. We performed biopsies of clinically‐normal skin in patients with the Forsius‐Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship‐Falls X‐linked ocular albinism. There were no abnormalities in the melanosomes of patients with Forsius‐Eriksson syndrome. Thus, this syndrome is distinct from the Nettleship

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00170.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chrommome was based on trypsin‐giemsa banding patterns and a paternal translocation involving chromosomes 3 and

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00171.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

One hundred and seventy Sudanese patients suffering from vitiligo were investigated for the distribution of A1A2BO, MNSs, Rhesus (genotypes), Kell and Duffy blood groups. The same genetic markers were investigated in Sudanese controls, consisting of two series: a published population series and a random sample of healthy blood donors. The relative frequencies of these blood groups were examined between the vitiligo patients and either or both of the control series. There was no significant association of ABO, Ss, Rhesus, Kell and Duffy blood groups in vitiligo. However, a significant association was observed with the MN system with an excess of homozygotes and of the M gene in vitiligo.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00172.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The transmission of a t(22q;22q) translocation is reported. The mother had had multiple miscarriages and carried both t(22q;22q) and t(22p;22p) portions of the rearrangement in a portion of her cells. The phenotypically normal daughter, who was the proband and was referred because of multiple miscarriages, also carried the t(22q;22q) translocation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00173.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A male child with Prader Willi syndrome and ade novo9p/15q translocation is described. A review of the literature showed that a translocation involving 15q has been described in seven cases of this syndrome. The possible relationship between Prader Willi syndrome and breakage of chromosome no. 15 in qll region is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00174.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Ade novopartial 13q monosomy is reported in a severely affected 8–year‐old female with the karyotype46, XX, del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R‐banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00175.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY