Literature DB >> 26918398

Partial trisomy of chromosome 21 without the Down syndrome phenotype.

Mei-Tsz Su1, Long-Ching Kuan2, Yen-Yin Chou3, Shang-Yi Tan1, Tsung-Cheng Kuo2, Pao-Lin Kuo1.   

Abstract

Mesh：

Year:  2016        PMID： 26918398     DOI： 10.1002/pd.4796

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  5 in total

1.  Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Chiara Locatelli; Lorenza Vitale; Maria Caracausi; Allison Piovesan; Alessandro Rocca; Giulia Poletti; Marco Seri; Pierluigi Strippoli; Guido Cocchi
Journal:  Hum Mol Genet       Date:  2016-04-22       Impact factor: 6.150

2.  A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH.

Authors:  Shama L Bhola; Aggie W M Nieuwint; Kyra E Stuurman
Journal:  Clin Case Rep       Date:  2018-05-29

3.  Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Authors:  Franziska Schnabel; Mateja Smogavec; Rudolf Funke; Silke Pauli; Peter Burfeind; Iris Bartels
Journal:  Mol Cytogenet       Date:  2018-12-29       Impact factor: 2.009

4.  Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Michael B Petersen; Lisbeth Tranebjaerg; Teresa Mattina; Pamela Magini; Francesca Antonaros; Maria Caracausi; Lorenza Vitale; Chiara Locatelli; Marco Seri; Pierluigi Strippoli; Allison Piovesan; Guido Cocchi
Journal:  Mol Genet Genomic Med       Date:  2019-06-25       Impact factor: 2.183

5.  Drug-Targeted Genomes: Mutability of Ion Channels and GPCRs.

Authors:  Regan Raines; Ian McKnight; Hunter White; Kaitlyn Legg; Chan Lee; Wei Li; Peter H U Lee; Joon W Shim
Journal:  Biomedicines       Date:  2022-03-03
  5 in total

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