Literature DB >> 9475101

Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.

J Davies1, A Jaffé, A Bush.   

Abstract

Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.

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Year:  1998        PMID： 9475101      PMCID： PMC1051193          DOI： 10.1136/jmg.35.1.72

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

Authors:  A Forabosco; S Bernasconi; G Giovannelli; B Dutrillaux
Journal:  Helv Paediatr Acta       Date:  1975-10

2.  Familial partial trisomy of the long arm of chromosome 10 (q24-26).

Authors:  H Moreno-Fuenmayor; E H Zackai; W J Mellman; M Aronson
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124

3.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

4.  [6-12 13-15 translocation and partial 6-12 trisomy (probably 10)].

Authors:  J de Grouchy; J Canet
Journal:  Ann Genet       Date:  1965

5.  Partial trisomy 10q in three unrelated patients.

Authors:  K Taysi; V Yang; N Monaghan; N Beraha
Journal:  Ann Genet       Date:  1983

6.  Ocular phenotype in partial trisomy 10 q.

Authors:  L Prosperi; S Bernasconi; A Forabosco
Journal:  Ophthalmologica       Date:  1977       Impact factor: 3.250

7.  Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Authors:  S Kroyer; E Niebuhr
Journal:  Ann Genet       Date:  1975-03

8.  Trisomy 10qter confirmed by in situ hybridisation.

Authors:  V Briscioli; G Floridia; E Rossi; A Selicorni; F Lalatta; O Zuffardi
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

9.  Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter.

Authors:  R A Pfeiffer; A Jünemann; B Lorenz; E Sieber
Journal:  Clin Genet       Date:  1995-10       Impact factor: 4.438

10.  Ocular findings in partial trisomy 10q syndrome.

Authors:  K Neely; M B Mets; P Wong; K Szego
Journal:  Am J Ophthalmol       Date:  1988-07-15       Impact factor: 5.258
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  5 in total

1.  Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.

Authors:  Jianlong Zhuang; Chunnuan Chen; Rongfu Huang; Qi Luo; Yuying Jiang; Shuhong Zeng; Yuanbai Wang; Yingjun Xie
Journal:  Mol Cytogenet       Date:  2022-06-07       Impact factor: 1.904

2.  Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.

Authors:  Yasser Al-Sarraj; Hakam Abu Al-Khair; Rowaida Ziad Taha; Namat Khattab; Zakaria H El Sayed; Bushra Elhusein; Hatem El-Shanti
Journal:  Clin Case Rep       Date:  2014-07-25

3.  Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.

Authors:  Siew-Lee Wong; Hsin-Hsu Chou; Chung-Nun Chao; Joseph Hang Leung; Yu-Hsin Chen; Cheng-Da Hsu
Journal:  BMC Res Notes       Date:  2015-06-19

4.  Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Authors:  Emiy Yokoyama-Rebollar; Adriana Ruiz-Herrera; Esther Lieberman-Hernández; Victoria Del Castillo-Ruiz; Silvia Sánchez-Sandoval; Silvia M Ávila-Flores; José Luis Castrillo
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

5.  Clinical expression of an inherited unbalanced translocation in chromosome 6.

Authors:  Bani Bandana Ganguly; Vijay Kadam; Nitin N Kadam
Journal:  Case Rep Genet       Date:  2011-09-25
  5 in total

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