Literature DB >> 758423

X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome.

S B Vasquez, D L Hurst, J F Sotos.   

Abstract

Five male members in four generations of the same family had hypogonadism, gynecomastia, mental retardation, obesity, and short stature. The X-linked mode of inheritance, the distinctive facies, the normal size of the hands and feet, and the true gynecomastia are the main characteristics. Endocrine evaluation and histologic studies of the testes suggest partial hypogonadotropic hypogonadism. This disorder represents a new syndrome distinct from others previously described.

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Year:  1979        PMID: 758423     DOI: 10.1016/s0022-3476(79)80350-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  8 in total

1.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Authors:  R E Stevenson; B Häne; J F Arena; M May; L Lawrence; H A Lubs; C E Schwartz
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

5.  X-linked mental retardation: in pursuit of a gene map.

Authors:  C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

6.  X linked mental retardation: a family with a separate syndrome?

Authors:  E M Thompson; A Gordon; M Baraitser
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

7.  A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.

Authors:  R C Juberg; I Marsidi
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025

8.  Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

Authors:  Natália D Linhares; Eugênia R Valadares; Silvia S da Costa; Rodrigo R Arantes; Luiz Roberto de Oliveira; Carla Rosenberg; Angela M Vianna-Morgante; Marta Svartman
Journal:  Meta Gene       Date:  2016-07-07
  8 in total

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