Literature DB >> 11328480

Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation.

K Maruyama1, T Koizumi, H Ikeda.   

Abstract

A male neonate with partial monosomy 10q and partial trisomy 11q, due to paternal balanced translocation, and who had cerebellar and olfactory lobe hypoplasia, cardiovascular defects, duodenal atresia and imperforate anus, is presented. To the best of our knowledge, this is the first report on this combination of chromosomal abnormalities.

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Year:  2001        PMID： 11328480     DOI： 10.1046/j.1440-1754.2001.00587.x

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN： 1034-4810            Impact factor:   1.954


  4 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.  Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.

Authors:  Elise J Huisman; A Rick Brooimans; Samone Mayer; Marieke Joosten; Louis de Bont; Mariëlle Dekker; Elisabeth L M Rammeloo; Frans J Smiers; P Martin van Hagen; C Michel Zwaan; Masja de Haas; Marjon H Cnossen; Virgil A S H Dalm
Journal:  J Clin Immunol       Date:  2022-06-28       Impact factor: 8.317

3.  Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Authors:  Rongyu Chen; Chuan Li; Bobo Xie; Jin Wang; Xin Fan; Jingsi Luo; Xuyun Hu; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2014-12-24       Impact factor: 2.009

4.  Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.

Authors:  Xinyue Meng; Lili Jiang
Journal:  BMC Pregnancy Childbirth       Date:  2022-01-19       Impact factor: 3.007
  4 in total

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