Literature DB >> 10076888

Maternal uniparental disomy of chromosome 21 in a normal child.

P K Rogan1, D W Sabol, H H Punnett.   

Abstract

Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline.

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Year:  1999        PMID： 10076888     DOI： 10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>3.0.co;2-q

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


  5 in total

Review 1.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

2.  Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.

Authors:  Holger Herlyn; Ulrich Zechner; Franz Oswald; Arne Pfeufer; Hans Zischler; Thomas Haaf
Journal:  BMC Evol Biol       Date:  2009-08-06       Impact factor: 3.260

3.  Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.

Authors:  Antônio Francisco Alves da Silva; Filipe Brum Machado; Érika Cristina Pavarino; Joice Matos Biselli-Périco; Bruna Lancia Zampieri; Ronaldo da Silva Francisco Junior; Pedro Thyago Mozer Rodrigues; Douglas Terra Machado; Cíntia Barros Santos-Rebouças; Maria Gomes Fernandes; Susana Marina Chuva de Sousa Lopes; Álvaro Fabricio Lopes Rios; Enrique Medina-Acosta
Journal:  PLoS One       Date:  2016-04-21       Impact factor: 3.240

4.  A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.

Authors:  Sayaka Omori; Hideyuki Tanabe; Kimihiko Banno; Ayumi Tsuji; Nobutoshi Nawa; Katsuya Hirata; Keiji Kawatani; Chikara Kokubu; Junji Takeda; Hidetoshi Taniguchi; Hitomi Arahori; Kazuko Wada; Yasuji Kitabatake; Keiichi Ozono
Journal:  Sci Rep       Date:  2017-04-10       Impact factor: 4.379

5.  Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Authors:  Meng Su; Paul J Benke; Guney Bademci; Filiz Basak Cengiz; Xiaomei Ouyang; Jinghong Peng; Carmen E Casas; Mustafa Tekin; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2018-08-01       Impact factor: 2.009
  5 in total

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