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

Molecular Syndromology

Anelisa Gollo Dantas¹  Adriana Azoubel Antunes¹  Maria Isabel Melaragno¹  Sylvia Takeno Herrero¹  Beatriz Tavares Costa-Carvalho¹  Vera Ayres Meloni¹  Adriana Bortolai¹  Mariana Moysés-Oliveira¹ 

[1] aGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil

关键词: Deletion syndrome 22q11.2;    In vitro fertilization;    IRF-4 transcription factor;   

DOI  :  10.1159/000441243

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown