Literature DB >> 711241

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

G S Sekhon, K Taysi, R Rath.   

Abstract

A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46, XX-XY,t(2;14)(p21;q32).

Entities:  

Mesh：

Year:  1978        PMID： 711241     DOI： 10.1007/bf00283579

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

Authors:  R E Magenis; R D Koler; E Lovrien; R H Bigley; M C DuVal; K M Overton
Journal:  Proc Natl Acad Sci U S A       Date:  1975-11       Impact factor: 11.205

2.  The chromosome 2 distal short arm trisomy syndrome.

Authors:  S B Cassidy; R M Heller; E M Chazen; E Engel
Journal:  J Pediatr       Date:  1977-12       Impact factor: 4.406

3.  [Equilibrated 2-14 translocation in a mother and partial trisomy of a pair of the short branches of a number 2 chromosome in 2 of her children].

Authors:  C Stoll; J Messer; J Vors
Journal:  Ann Genet       Date:  1974-09

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

Authors:  S Armendares; F Salamanca-Gómez
Journal:  Clin Genet       Date:  1978-01       Impact factor: 4.438

5.  The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred.

Authors:  U Francke; K L Jones
Journal:  Am J Dis Child       Date:  1976-11
  5 in total
  2 in total

1.  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

2.  Highly polymorphic DNA site D14S1 maps to the region of Burkitt lymphoma translocation and is closely linked to the heavy chain gamma 1 immunoglobulin locus.

Authors:  I Balazs; M Purrello; P Rubinstein; B Alhadeff; M Siniscalco
Journal:  Proc Natl Acad Sci U S A       Date:  1982-12       Impact factor: 11.205
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.