Literature DB >> 2658586

Chromosome 10qter deletion syndrome: a review and report of three new cases.

E A Wulfsberg1, R P Weaver, C M Cunniff, M C Jones, K L Jones.   

Abstract

We report on three patients with terminal deletions of chromosome 10q and compare them to 15 previously reported patients. A similar facial appearance with a prominent beaked nose, large and/or malformed ears, and a pattern of major abnormalities including severe mental retardation, cardiac anomalies, and anogenital anomalies are reviewed. We feel the manifestations of del 10qter are sufficiently distinct to suggest this diagnosis on clinical examination.

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Year:  1989        PMID: 2658586     DOI: 10.1002/ajmg.1320320319

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


  7 in total

1.  Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Authors:  Nathaniel D Miller; Melonie A Nance; Elizabeth S Wohler; Julie E Hoover-Fong; Emily Lisi; George H Thomas; Jonathan Pevsner
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

Review 2.  Interstitial deletion of chromosome 10q23: a new case and review.

Authors:  S A Farrell; W Szymonowicz; G Chow; A M Summers
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

3.  An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.

Authors:  Hassan M Minhas; Matthew F Pescosolido; Matthew Schwede; Justyna Piasecka; John Gaitanis; Umadevi Tantravahi; Eric M Morrow
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

4.  Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Authors:  Živilė Čiuladaitė; Birutė Burnytė; Danutė Vansevičiūtė; Evelina Dagytė; Vaidutis Kučinskas; Algirdas Utkus
Journal:  Mol Cytogenet       Date:  2015-04-21       Impact factor: 2.009

5.  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 6.  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

7.  Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.

Authors:  Annalisa Buniello; Rachel E Hardisty-Hughes; Johanna C Pass; Eva Bober; Richard J Smith; Karen P Steel
Journal:  PLoS One       Date:  2013-02-14       Impact factor: 3.240

  7 in total

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