Literature DB >> 1177283

Klinefelter's syndrome associated with a D/D translocation.

M Sparagana, G P Smith.   

Abstract

A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.

Entities:  

Mesh：

Year:  1975        PMID： 1177283      PMCID： PMC1013294          DOI： 10.1136/jmg.12.3.299

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

2.  [Chromosome aberrations and human diseases. XXY Klinefelter's syndrome from 46 chromosomes caused by T-T centromeric fusion].

Authors:  J LEJEUNE; R TURPIN; J DECOURT
Journal:  C R Hebd Seances Acad Sci       Date:  1960-03-28

3.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

4.  The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography.

Authors:  M M Cohen
Journal:  Ann Genet       Date:  1971-06

5.  Fertility in balanced heterozygotes for a familial centric fusion translocation, t(DgDg).

Authors:  J A Wilson
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

6.  [Syndrome 47, XXYY, 13-, 14-, t(13q14q)+].

Authors:  S Gilgenkrantz; J P Grilliat; D A Vautrin; B Plouvier; C Cabrol
Journal:  Ann Genet       Date:  1970-09
  6 in total
  4 in total

1.  Familial balanced translocation 4p+/17q- as a suggested cause of primary trisomy-21 Down's syndrome.

Authors:  K Oikawa; M Trent; R Lebovitz
Journal:  Arch Dis Child       Date:  1977-11       Impact factor: 3.791

Review 2.  Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature.

Authors:  F Mahjoubi; F Razazian
Journal:  J Assist Reprod Genet       Date:  2012-03-01       Impact factor: 3.412

3.  Hypospadias and gynecomastia in a male associated with autosomal balanced translocation.

Authors:  D S Krishna Murthy; V C Shah; A K Chadha; S K Murthy; A B Desai
Journal:  Indian J Pediatr       Date:  1985 Jul-Aug       Impact factor: 1.967

4.  A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.

Authors:  I Kondo; H Hamaguchi; A Matsuura; H Nakajima; A Koyama; H Takita
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318
  4 in total

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