A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins.
Array CGH
Autism
Chromosomal microarray analysis
Copy number variations
Deletion syndrome
Dysmorphology
FISH
Genotype-phenotype correlation
Mosaicism
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
accepted:
12
11
2019
entrez:
6
2
2020
pubmed:
6
2
2020
medline:
6
2
2020
Statut:
ppublish
Résumé
Balanced de novo non-robertsonian translocations (non-RTs), which involve acrocentric chromosomes, are rare findings in clinical cytogenetics and may be associated with an abnormal phenotype. These translocations, detected by conventional karyotyping, are found in approximately 1:1,000 neonates. In most of these cases, one of the parents carries the same translocation. In this study, we report a rare non-RT involving chromosomes 15 and 22 defined as 45, XX, -22,der(15;22)t(15;22)/46, XX, der(15)t(15;22),der(22). To our knowledge, this is the first report of a non-RT t(15;22) with these breakpoints.
Identifiants
pubmed: 32021606
doi: 10.1159/000505004
pii: msy-0010-0320
pmc: PMC6995972
doi:
Types de publication
Journal Article
Langues
eng
Pagination
320-326Informations de copyright
Copyright © 2019 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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