Literature DB >> 1920392

The partial monosomy 10q syndrome: report on two patients and review of the developmental data.

C Schrander-Stumpel1, J P Fryns, G Hamers.   

Abstract

Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent nose and dysplastic ears was present. Specific attention is given to the developmental and behavioural data of the children. A review is made of the psychologic data of the 18 earlier reported surviving cases.

Entities:  

Mesh:

Year:  1991        PMID: 1920392     DOI: 10.1111/j.1365-2788.1991.tb01059.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN: 0022-264X


  2 in total

1.  Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Authors:  Fátima Lopes; Gabriela Soares; Miguel Gonçalves-Rocha; Jorge Pinto-Basto; Patrícia Maciel
Journal:  Front Genet       Date:  2017-10-09       Impact factor: 4.599

Review 2.  Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature.

Authors:  Shaobin Lin; Yi Zhou; Qun Fang; Jianzhu Wu; Zhiqiang Zhang; Yuanjun Ji; Yanmin Luo
Journal:  Mol Med Rep       Date:  2016-10-19       Impact factor: 2.952

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.