Literature DB >> 8556821

Monosomy 21q: two cases of del(21q) and review of the literature.

J L Huret1, C Léonard, M Chery, C Philippe, E Schafei-Benaissa, G Lefaure, B Labrune, S Gilgenkrantz.   

Abstract

We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in cases with a translocation is adjacent 1, adjacent 2, and 3:1 in about 1/4, 1/4 and 1/2 of the cases, respectively.

Mesh：

Year:  1995        PMID： 8556821     DOI： 10.1111/j.1399-0004.1995.tb04074.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors:  R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors:  Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

3.  Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.

Authors:  R Chrast; H S Scott; H Chen; J Kudoh; C Rossier; S Minoshima; Y Wang; N Shimizu; S E Antonarakis
Journal:  Genome Res       Date:  1997-06       Impact factor: 9.043

Review 4.  Familial myelodysplastic syndromes: a review of the literature.

Authors:  Elena Liew; Carolyn Owen
Journal:  Haematologica       Date:  2011-05-23       Impact factor: 9.941

5.  Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.

Authors:  Tao Yu; Steven J Clapcote; Zhongyou Li; Chunhong Liu; Annie Pao; Allison R Bechard; Sandra Carattini-Rivera; Sei-Ichi Matsui; John C Roder; Antonio Baldini; William C Mobley; Allan Bradley; Y Eugene Yu
Journal:  Mamm Genome       Date:  2010-05-29       Impact factor: 2.957

6.  Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Authors:  Marwan Shinawi; Ayelet Erez; Deborah L Shardy; Brendan Lee; Rizwan Naeem; George Weissenberger; A Craig Chinault; Sau Wai Cheung; Sharon E Plon
Journal:  Blood       Date:  2008-05-16       Impact factor: 22.113

7.  A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

Authors:  Chad R Haldeman-Englert; Kimberly A Chapman; Hillary Kruger; Elizabeth A Geiger; Donna M McDonald-McGinn; Eric Rappaport; Elaine H Zackai; Nancy B Spinner; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

8.  Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).

Authors:  Glòria Arqué; Vassiliki Fotaki; David Fernández; María Martínez de Lagrán; Maria L Arbonés; Mara Dierssen
Journal:  PLoS One       Date:  2008-07-02       Impact factor: 3.240

9.  Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.

Authors:  Felipe Ruiz-Botero; Harry Pachajoa
Journal:  J Med Case Rep       Date:  2016-07-27
  9 in total

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