Literature DB >> 140219

Down's syndrome and deletion of short arms of a G chromosome.

G H Ballantyne, M I Parslow, A M Veale, D H Pullon.   

Abstract

A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.

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Year:  1977        PMID: 140219      PMCID: PMC1013537          DOI: 10.1136/jmg.14.2.147

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


  13 in total

1.  Letter: Trisomies 21 and 18 in two sibs; another case.

Authors:  D Soudek; B McCreary; P Laraya
Journal:  J Pediatr       Date:  1975-08       Impact factor: 4.406

2.  FAMILIAL VARIANT AUTOSOMES: NEW HUMAN CYTOGENETIC MARKERS.

Authors:  B R MIGEON
Journal:  Bull Johns Hopkins Hosp       Date:  1965-06

3.  Familial mongolism.

Authors:  M W SHAW
Journal:  Cytogenetics       Date:  1962

4.  Atypical acrocentric chromosomes in Negro and Caucasian Mongols.

Authors:  M N Starkman; M W Shaw
Journal:  Am J Hum Genet       Date:  1967-03       Impact factor: 11.025

5.  Are 1q plus chromosomes harmless?

Authors:  R J Gardner; H R McCreanor; M I Parslow; A M Veale
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  Frequency of deletion of short arm satellites in acrocentric chromosomes.

Authors:  J Nielsen; U Friedrich; A B Hreidarsson
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

7.  Group G deletion syndromes.

Authors:  R P Kelch; M Franklin; R D Schmickel
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

8.  Familial occurrence of a short arm deletion of a G-group chromosome.

Authors:  M C Yoshida; T Honda
Journal:  Jinrui Idengaku Zasshi       Date:  1969-09

9.  Distributive pairing in man?

Authors:  R F Grell
Journal:  Ann Genet       Date:  1971-09

10.  Down's syndrome with additional XYY aneuploidy.

Authors:  P M Leary; P M Webb; C W Melzer; H G Close
Journal:  Clin Genet       Date:  1975-07       Impact factor: 4.438

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