摘要:

Though complete and mosaic tetraploidy in zygotes almost always leads to abortion early in pregnancy, some cases have been described in which development was more successful. We report a male neonate with microcephaly and various other anomalies, in whom tetraploidy was found in 16% of peripheral lymphocytes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01842.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Six males in two pedigrees presented a severe congenital mixed hearing loss and primary hypogonadism. Antisocial and immature behavior was evident in all the affected males. The mode of inheritance in this new disorder is suggestive of X‐linked recessive transmissio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01843.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

It has been claimed that the pH profile of mitochondrial NADH dehydrogenase in cultured skin fibroblasts can be used to distinguish cystic fibrosis homozygotes, heterozygotes and normal controls. This phenomenon has been examined in more readily accessible white blood cell preparations. The relative changes of activity of white cell NADH dehydrogenase in phosphate buffer at pH 8.0,8.3 and 8.6 were too small and too random to be useful in identifying the genotype of the donor.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01844.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A child with Moebius syndrome and minor extremity anomalies is described. Her father had a transverse defect of the right arm with absence of the radius and ulna just below the elbow but no cranial nerve dysfunction. While possibly unrelated, review of the literature suggests these anomalies may both be part of a single broad spectrum syndrome, perhaps dominantly inherited.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01845.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Metacarpophalangeal pattern profile (MCPP) was determined on 16 Prader‐Willi patients. Chromosome analysis of 14 patients showed an interstitial deletion of the long arm of chromosome 15 in seven subjects and normal chromosome results for the remaining individuals. Two separate and distinguishable hand profiles for each group based on the chromosome findings were identified. Correlation studies confirmed the homogeneity of the chromosome deletion group relative to the Prader‐Willi individuals with normal chromosomes. Discriminant analysis of Prader‐Willi versus normal individuals produces a function of three MCPP variables plus age which may provide a useful tool for diag

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01846.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Two hundred and fifteen schizophrenic patients (108 males and 107 females) in northeast England have been investigated for Gc types and subtypes and compared with the frequencies in first‐degree relatives and controls. Böök et al. (1978) described Gc2allele association with schizophrenia. No such association was found with the Gc2allele in the present study although there is a tendency towards an increased frequency in females. In subtype allele frequencies the female patients showed a significant reduction of GcISallele. The results suggest a difference in susceptibility associated with the Gc locus in patients of different se

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01847.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non‐mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 18, and only normal 46, XY cells were observed, while peripheral blood lymphocytes still demonstrated 47, XY,+18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arche

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01848.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A complete, selective lack of C4 was found in a girl who at 2 years of age presented with an atypical rash and low titres of antinuclear antibodies (<1/25). Rheumatoid factors were also found. The deficiency has been followed for 5 years. Tests for Chido and Rodgers antigens on the erythrocytes were negative. A possible proneness to bacterial infections has been noted with recurrent otitis media and purulent parotitis. At the age of 5, the patient developed polyarthritis of large joints and signs of glomerulonephritis. These symptoms responded well to high‐dose steroid treatment. At present, there are initial signs of sclerodactylia and some persistent exanthema and parotic swelling. IgM levels were remarkably high with 19 S IgM at about 7 g/1 and 7 S IgM at about 1.5 g/l. In the large kindred studied, lower immunochemical and functional C4 values were found in carriers of the genetical defect than in the rest of the family members. The C4 deficiency gene(s) segregated with HLA A2, Cw3, B40, BfS on the paternal, and with Aw30,‐, B18, BfF1on the maternal side of the fam

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01849.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Two cousins with trisomy for a part of the long arm of chromosome 10 and monosomy for the distal portion of the short arm of chromosome 4 are reported. These infants had severe, neonatally lethal, multiple malformations. Certain of these malformations ‐ including severe lower limb reductions, marked ophthalmologic anomalies and certain craniofacial features ‐ are inconsistent with either a simple additive effect of the two component chromosomal anomalies, or chromosomal “epistasis” that would result in observing the phenotypic effect of only one of the chromosomal aberrations. Rather a synergistic effect of these two karyotypic anomalies has resulted in unique phenotypic f

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01850.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A 10‐year‐old boy with developmental delay, craniofacial dy smorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 → qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17‐week‐old girl recently found to have the same deletion. Two additional patients with similar small deletions have been described in the literature. The similarity among the cases suggests the possibility of a deletion (4)(q33) syndrome. The major features of the syndrome are similar to those of larger deletions of the long arm of chromosome 4 and include mental and growth retardation, craniofacial dysmorphia including upslanting palpebral fissues, depressed nasal bridge, anteverted nares, abnormally shaped ears and micrognathia, and cardia

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01851.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY