Literature DB >> 6609678

De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy.

J P Fryns, A Kleczkowska, H Kenis.   

Abstract

A severely mentally retarded boy with a de novo, apparently balanced complex chromosomal rearrangement (CCR) of autosomes 2, 14 and 21 is described. This rearrangement involved one reciprocal and one insertional translocation with four breakpoints found at 2p11 ; 14q11 , 14q13 and 21q11 .

Entities:  

Mesh：

Year:  1984        PMID： 6609678

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


  3 in total

1.  Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Authors:  Sung-Hae L Kang; Chad Shaw; Zhishuo Ou; Patricia A Eng; M Lance Cooper; Amber N Pursley; Trilochan Sahoo; Carlos A Bacino; A Craig Chinault; Pawel Stankiewicz; Ankita Patel; James R Lupski; Sau Wai Cheung
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

2.  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

3.  Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Authors:  Adrian Mc Cormack; Karen Claxton; Fern Ashton; Philip Asquith; Edward Atack; Roberto Mazzaschi; Paula Moverley; Rachel O'Connor; Methat Qorri; Karen Sheath; Donald R Love; Alice M George
Journal:  Mol Cytogenet       Date:  2016-03-31       Impact factor: 2.009
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.