Literature DB >> 2109493

Terminal deletion of chromosome 10q and its clinical features.

R Kogasaka1, T Morohoshi, Y Sawada, M Fujiwara.   

Abstract

A male case with terminal deletion of chromosome 10q has growth retardation, craniofacial dysmorphism, congenital heart disease and other minor anomalies. The karyotypic formula is 46, XY, del (10), (q26.1----qter) by a high resolution G-banding staining. There are few differences in clinical features between our case and the previously reported cases.

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Year:  1990        PMID: 2109493     DOI: 10.1111/j.1442-200x.1990.tb00788.x

Source DB:  PubMed          Journal:  Acta Paediatr Jpn        ISSN: 0374-5600


  2 in total

1.  Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation.

Authors:  F Tinsa; Y Chebbi; M Meddeb; D Bousnina; K Boussetta; S Bousnina
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

2.  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

  2 in total

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