Literature DB >> 138496

Down syndrome due to partial trisomy 21q.

J Cervenka, R J Gorlin, G R Djavadi.   

Abstract

A patient is reported with a typical Down syndrome phenotype, caused by patrial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.

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Year:  1977        PMID： 138496     DOI： 10.1111/j.1399-0004.1977.tb01288.x

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


  11 in total

1.  Normal phenotype and partial trisomy for the G positive region of chromosome 21.

Authors:  A Daniel
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

2.  Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

Authors:  Anne Ronan; Kerry Fagan; Louise Christie; Jeffrey Conroy; Norma J Nowak; Gillian Turner
Journal:  BMJ Case Rep       Date:  2009-06-04

3.  Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authors:  M L Van Keuren; P C Watkins; H A Drabkin; E W Jabs; J F Gusella; D Patterson
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

4.  Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.

Authors:  M Van Keuren; H Drabkin; I Hart; D Harker; D Patterson; S Vora
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

5.  Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

Authors:  N Philip; M A Baeteman; M G Mattei; J F Mattei
Journal:  Eur J Pediatr       Date:  1984-04       Impact factor: 3.183

6.  A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

Authors:  F Nielsen; L Trånebjaerg
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

7.  The cellular basis of aging.

Authors:  C H Scoggin
Journal:  West J Med       Date:  1981-12

8.  Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

Authors:  Anne Ronan; Kerry Fagan; Louise Christie; Jeffrey Conroy; Norma J Nowak; Gillian Turner
Journal:  J Med Genet       Date:  2007-01-19       Impact factor: 6.318

9.  The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

Authors:  M Münke; J P Kraus; T Ohura; U Francke
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025

10.  Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.

Authors:  K Taysi; R S Sparkes; T J O'Brien; D R Dengler
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318
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