Literature DB >> 10440820

Partial monosomy of distal 10q: three new cases and a review.

D J Waggoner1, C K Chow, S B Dowton, M S Watson.   

Abstract

We report on 3 patients with partial deletions of the long arm of chromosome 10-46,XY,del (10)(q26.2), 46,XX,del(10) (q25.3q26.3) or 46,XX,del(10)(q26.1), and 46,XX,del (10)(q26.1). They are compared with other known cases with interstitial or terminal deletions involving chromosome bands 10q25 or q26. Unique manifestations are identified, including scoliosis and a severe behavior disorder with attention deficit and hyperactivity in a 12-year-old boy as well as patchy alopecia in a 6-year-old patient. Copyright 1999 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  1999        PMID: 10440820

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  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

3.  Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies.

Authors:  B Xiao; X Ji; Y Xing; W-T Jiang; J-M Zhang; J Tao
Journal:  Mol Syndromol       Date:  2012-09-27

Review 4.  Ring chromosome 10: report on two patients and review of the literature.

Authors:  Roberta Santos Guilherme; Chong Ae Kim; Luis Garcia Alonso; Rachel S Honjo; Vera Ayres Meloni; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal:  J Appl Genet       Date:  2012-12-18       Impact factor: 3.240

5.  "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Authors:  C L Martin; D J Waggoner; A Wong; S Uhrig; J A Roseberry; J F Hedrick; S D Pack; K Russell; E Zackai; W B Dobyns; D H Ledbetter
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

6.  Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2.

Authors:  Sami K Boualia; Yaned Gaitan; Inga Murawski; Robert Nadon; Indra R Gupta; Maxime Bouchard
Journal:  PLoS One       Date:  2011-06-24       Impact factor: 3.240

7.  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

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.