Literature DB >> 158447

A chromosome survey of a hospital for the mentally subnormal.

M J Faed, J Robertson, M A Field, J P Mellon.   

Abstract

A cytogenetic survey of 756 resident, but otherwise unselected, mentally retarded patients in a Scottish hospital is reported. The karyotypes of all patients were examined using orcein-stained cells, and those found to be abnormal, other than those with standard trisomy 21, were further investigated using a banding technique. A total of 103 patients were found to have an abnormal chromosome complement, of whom 91 had Down's syndrome (including six with translocations), six had some other autosomal abnormality, and six had an abnormality of the sex chromosome complement, including two with an XXYY complement. Details of the clinical and cytogenetic features are presented.

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Mesh:

Year:  1979        PMID: 158447     DOI: 10.1111/j.1399-0004.1979.tb00990.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

1.  Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

Authors:  Jennifer Reiner; Lisa Karger; Ninette Cohen; Lakshmi Mehta; Lisa Edelmann; Stuart A Scott
Journal:  J Mol Diagn       Date:  2017-03-18       Impact factor: 5.568

2.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome.

Authors:  P A Jacobs; M Mayer; J Matsuura; F Rhoads; S C Yee
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 4.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

Review 5.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.

Authors:  A Smith; M Noel
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  A cytogenetic study of a population of retarded females with special reference to the fragile (X) syndrome.

Authors:  M Mayer; M A Abruzzo; P A Jacobs; S C Yee
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Ring chromosome 22: a review of the literature and first report from India.

Authors:  S Mahajan; A Kaur; J Singh
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

  8 in total

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