摘要:

We describe a family where four brothers show the rare heritable folate sensitive autosomal fragile site (FSAFS) at 19pl3 when cells were grown in TCI99. Two of the brothers are schizophrenic while one brother is mentally retarded with autistic‐like features. The clinical significance of this fragile site however is still unknow

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02759.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A new variant of blood group A [A(WAS)] was expressed in three generations of a Caucasian family: Phenotype included weak mixed field hemagglutination by anti‐A reagents, secretion of H substance, and presence of anti‐Ai in serum. The A(WAS) variant was inherited in a Mendelian fashion, dominant to O. A‐transferase activity was absent from cells and saliva but was 0.2% of normal A, transferase activity in serum, with a pH optimum of 6.0. Family members expressing A(WAS) also demonstrated partly deficient H type on cells (Hm). H‐transferase activity in serum was normal for a weak A subgroup and showed typical Km and acceptor specificities. Linkage of H‐modifier and ABO loci cannot be

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02760.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Two patients with triphalangeal thumbs‐ectrodactyly syndrome are described.The first case is a 4‐year‐old female with triphalangeal thumbs, preaxial Polydactyly with rudimentary Polydactyly of the 3rd finger of the right hand and ectro‐syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachysyndactyly of the left foot and ectro‐syndactyly of the right one. The maternal grandmother has syndactyly of 1st, 2nd, 3rd toes and hypoplasia of the 3rd toe on the right foot.The second case is sporadic and shows triphalangeal thumbs, preaxial Polydactyly of the right hand and bilateral lobster‐claw feet.Our observations confirm the variability of clinical expression and support the autosomal dominant inheritance of t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02761.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen‐year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia.It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettle

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02762.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A numerical alteration in chromosome complement in human dermal fibroblast cultures, hyperdiploidy with a normal occurrence of tetraploidy (IVH) has been reported (Danes 1984) to be associated with some heritable single tumors including squamous carcinoma of the nasopharynx (Danes 1986). The incidence of IVH was compared in cultures derived from 65 patients with squamous carcinoma in different regions of the aerodigestive tract (ADT) and 32 clinically normal subjects without a family cancer history by 2 different assays, metaphase assay (MA) and flow cytometry (FCM).By MA, none of the 32 normals showed IVH. Of the 65 ADT patients studied, 35 had IVH and 30 did not. By FCM, there were significant differences in the FCM DNA index (p valuesI could be used to distinguish all IVH˜ from the IVH + subjects and were thus considered to be the parameters of choice in assaying IVH by FCM. None of the subjects studied showed increased in vitro tetraploidy (IVT) which has been associated with some heritable colon cancer syndromes.Irrespective of family cancer history, approximately half (35/65) of the ADT patients had IVH which has been shown to be associated with the in vivo expression of certain heritable tumors. The average age of squamous carcinoma diagnosis was earlier (mean 50 yrs) for the IVH* group than for the IVH˜ADT group (mean 72

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02763.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 38‐year‐old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibeili (PM) developed multiple carcinomas of the skin and lung. There were multiple, spontaneous chromosomal aberrations and frequent sister chromatid exchanges (SCE). Cutaneous delayed‐type hypersensitivity reactions were defective and serum IgM was decreased. The lung cancer was treated with radiation, which was effective but caused a severe pulmonary atelectasis and esophageal stricture. The patient expired one‐and‐a‐half years later because of pneumonia. Autopsy disclosed an adenocarcinoma of the colon. The concurrent PM was considered responsible for the occurrence of multiple s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02764.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02765.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10.This is the first report which links deletion of chromosome 2lq to the holoprosencephaly phenotype.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02766.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Eighty‐five mentally retarded patients had their chromosomes examined by using the high resolution banding techniques. Fifty‐nine of them had multiple congenital anomalies and/or dysmorphic features. Twenty‐six had mental retardation but no major anomalies; they were primarily suspected of having the fragile X syndrome. This suspicion was first excluded. Fifteen patients were found to have a chromosome aberration, interpreted as clinically significant. Eleven of them had been examined earlier by conventional methods. The aberrations found were divided into three groups: (I) those detectable with an accuracy of ca. 300–400 bands (N = 4), (II) those detectable with an accuracy of ca. 400–550 bands (N = 6) and (III) those detectable with an accuracy of ca. 550–850 bands (N = 5). The aberrations are described an

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02767.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02768.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY