摘要:

The recent observation by Arndt‐Hansen et al. (1974) of increased frequency of blood group A over group O in blood donors positive for the hepatitis associated antigen has been investigated in Down's syndrome, in order to establish if this could account for the increased frequency of the antigen in that syndrome.Seventy‐one of 227 subjects with Down's syndrome (31.3%) were found to be positive for the antigen by haemagglutination, and comparison of these with the HAA‐subjects failed to reveal any differences in the ABO blood g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01946.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Two brothers, the only children of healthy, unrelated parents with normal karyotypes, had 47,XXY‐Klinefelter's syndrome and bilateral testicular teratomas. The oldest XXY‐boy had, in addition, congenital hydrocephalus caused by congenital stenosis of the aqueduct of Sylv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01947.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C‐banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 {(inv 2) (p15) q21

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01948.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A micromethod enabling the making of chromosome preparations from fibroblasts and amniotic cells cultured on surface‐treated Microtest II plates is presented. Preparations from each well contain sufficient metaphases to perform a reliable diagnosis. The potential for the use of this method in early prenatal diagnosis is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01949.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Three cases of cleidocranial dysostosis from two unrelated consanguineous families are reported. The family setting, the distribution of the affected members, plus the severity of involvement suggest that there is also an autosomal recessive form of this disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01950.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A large kindred is reported in which 21 members are balanced t(14q22q) carriers. The components of the translocation were identified by autoradiography and G‐banding. With the exception of the index case, who was retarded, all of the carriers were phenotypically normal. The segregation pattern of the translocation chromosome was determined in two complete generations. All eight of the progeny in one generation were balanced carriers, and the carrier father of this generation may have been homozygous for the t(14q22q) chromosome. Segregation in the next generation was closer to the expected 1:1 ratio of carrier to non‐carrier, the ratio being 11

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01951.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

436 index patients with major congenital urinary tract malformations, 385 with upper and 51 with lower urinary tract anomalies, were studied. A significant male sex predominance was noted in each group. No apparent correlation was found between parental age, birth order, birth weight and incidence of these malformations. The association with abnormalities outside the urinary tract was more frequent in the upper urinary tract group. In this group, the mean consanguinity index was 283. 10‐5 and, among those patients where a family study was made, 16.6% had positive family histories. The incidence of urinary tract malformations was 4.0% for the first degree relatives, and 1.1% for second degree relatives (grandparents only). In this group, the concordance rate was 50% in four ***monozygotic, and 0 5% (nil) in three dizygotic, twin pairs. The findings, in agreement with studies of other congenital malformations, suggest at least in part, a multifactorial etiology, particularly in the case of upper urinary tract malformations, depending upon genetic predisposition and environmental factor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01952.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Metacarpal cortical thickness has been measured in a sample of 47,XXY men and two control samples of 46,XY men and 46,XX women in the age range 20–70. The results suggest that in this age range cortical thickness in 47,XXY men is more similar to that of normal women than normal me

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01953.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A further case of Down's syndrome with additional XYY aneuploidy is reported. The child has been followed for 5 years. It has not been possible to recognise any phenotypical feature which distinguishes the patient from others with Down's syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01954.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non‐bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndrome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01955.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY