Literature DB >> 624187

Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation.

S Armendares, F Salamanca-Gómez.   

Abstract

Partial 2p trisomy was diagnosed (by the G-banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent-1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.

Entities:  

Mesh:

Year:  1978        PMID: 624187

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


  7 in total

1.  Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.

Authors:  L K Kochilas; D N Abuelo; U Tantravahi
Journal:  Pediatr Cardiol       Date:  2007-08-04       Impact factor: 1.655

Review 2.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31).

Authors:  G Simoni; L Dalprà; G L Terzoli; F Rossella; M G Tibiletti
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.

Authors:  G S Sekhon; K Taysi; R Rath
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132

5.  Interstitial deletion (2)(p13p15).

Authors:  D Duca; D Ioan; P Meilă; M Ionescu-Cerna; L Simionescu; C Maximilian
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 7.  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

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.