Literature DB >> 6974534

Familial partial distal 18q (18q22-18q23) trisomy.

A De Muelenaere, J P Fryns, H Van den Berghe.   

Abstract

Three siblings were found to have partial trisomy of the distal portion of the long arm of chromosome 18 (18q22-18q23). This partial 18qter trisomy is the unbalanced product of a maternal 6p/18q trisomy with insertion of the distal portion of 18q(18q22-18q23) into band 6p11. The available data on the different partial trisomies of chromosome 18 are briefly reviewed.

Entities:  

Mesh：

Year:  1981        PMID： 6974534

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


  3 in total

1.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

2.  The human myelin-basic-protein gene: chromosomal localization and RFLP analysis.

Authors:  J Kamholz; R Spielman; K Gogolin; W Modi; S O'Brien; R Lazzarini
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

3.  Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.

Authors:  Rodrigo Roncato Pereira; Irene Plaza Pinto; Lysa Bernardes Minasi; Aldaires Vieira de Melo; Damiana Mirian da Cruz e Cunha; Alex Silva Cruz; Cristiano Luiz Ribeiro; Cláudio Carlos da Silva; Daniela de Melo e Silva; Aparecido Divino da Cruz
Journal:  PLoS One       Date:  2014-07-25       Impact factor: 3.240
  3 in total

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