Literature DB >> 25944586

Partial trisomy 21: a fifty-year follow-up visit.

J Austin Hamm1, Andrew J Carroll1, Fady M Mikhail1, Bruce R Korf1, Wayne H Finley1.   

Abstract

We describe a clinical encounter with family members that carry a balanced translocation involving chromosomes 15 and 21 roughly 50 years after the proband was diagnosed with partial trisomy 21 due to an unbalanced translocation. We discuss how these chromosomal rearrangements have impacted the lives of these individuals, and how they responded to revisiting their diagnoses after using updated cytogenetic techniques including high resolution chromosome banding and array comparative genomic hybridization.
© 2015 Wiley Periodicals, Inc.

Keywords:  array comparative genomic hybridization; balanced translocation; history of genetic testing; trisomy 21

Mesh：

Year:  2015        PMID： 25944586     DOI： 10.1002/ajmg.a.37031

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  2 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.  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
  2 in total

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