Literature DB >> 7211958

X-linked mental retardation: Renpenning revisited.

P Fox, D Fox, J W Gerrard.   

Abstract

Nine men with X-linked mental retardation (MR) belonging to the family originally described by Renpenning and his colleagues have been reexamined and restudied. None of these men have the fragile X chromosome, and none have macro-orchidism; their testes range in size from small to average. All but one are severely retarded; one has an IQ of 70, the mean IQ of the remainder is 30 with a range of 18 to 45. They are short in stature, have small or normal-size ears and lower jaws, and a moderate degree of microcephaly, the mean skull circumference being just below two standard deviations from the normal.

Entities:  

Mesh:

Year:  1980        PMID: 7211958     DOI: 10.1002/ajmg.1320070409

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  13 in total

Review 1.  X linked mental retardation.

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

Review 2.  Non-specific X linked mental retardation.

Authors:  B Kerr; G Turner; J Mulley; A Gedeon; M Partington
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  Renpenning syndrome maps to Xp11.

Authors:  R E Stevenson; J F Arena; E Ouzts; A Gibson; M H Shokeir; C Vnencak-Jones; H A Lubs; M May; C E Schwartz
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

4.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

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.  Absence of the fragile X in a group of patients with idiopathic mental retardation.

Authors:  A G Hunter; J MacDonald; J A Evans
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

7.  Non-specific X-linked mental retardation with fragile X chromosome: somatic features, cytogenetic diagnosis and elements for genetic counselling.

Authors:  M A de Arce; E Law; J G Masterson
Journal:  Ir J Med Sci       Date:  1983-12       Impact factor: 1.568

Review 8.  Nonspecific X-linked mental retardation--a review.

Authors:  G Tariverdian; B Weck
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

Authors:  A McDermott; R Walters; R T Howell; A Gardner
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

10.  X-linked mental retardation with the fragile X. A study of 15 families.

Authors:  J F Mattei; M G Mattei; C Aumeras; M Auger; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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