Literature DB >> 2947534

Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.

C Léonard, M Gautier, P M Sinet, J Selva, J L Huret.   

Abstract

Aneusomie de recombinaison arose from a familial pericentric inversion of a chromosome 21. Two female patients had a typical Down syndrome; one of them had slight psychomotor retardation. There was partial trisomy 21q2109----qter in these two patients but ZnCu SOD activity was normal.

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Year:  1986        PMID： 2947534

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  5 in total

1.  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

2.  Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

Authors:  J M Delabar; P M Sinet; B Chadefaux; A Nicole; A Gegonne; D Stehelin; F Fridlansky; N Créau-Goldberg; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

3.  Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Authors:  M C Pellissier; M Laffage; N Philip; E Passage; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

4.  A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report.

Authors:  Naeimeh Tayebi; Hossain Khodaei
Journal:  Oman Med J       Date:  2011-11

5.  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
  5 in total

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