22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

Autor:	Anelisa Gollo Dantas, Vera Ayres Meloni, Adriana Bortolai, Maria Isabel Melaragno, Adriana Azoubel Antunes, Mariana Moysés-Oliveira, Beatriz Tavares Costa-Carvalho, Sylvia Takeno Herrero
Rok vydání:	2015
Předmět:	Genetics Chromosome Chromosomal translocation Karyotype Biology Molecular biology Original Article Haploinsufficiency Chromosome 22 Gene Genetics (clinical) IRF4 Interferon regulatory factors
Zdroj:	Molecular Syndromology. 6:242-247
ISSN:	1661-8777 1661-8769
DOI:	10.1159/000441243
Popis:	We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the IRF4 gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669a0639950f203336ffa26ab156e042 https://doi.org/10.1159/000441243 Zobrazit plný text záznamu