A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.

ABSTRACT:

Background

There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader-Willi/Angelman critical region. Trisomy 9p is the fourth most frequent chromosome anomaly with a clinically recognizable syndrome often accompanied by intellectual disability. Here we report a new case of a patient with maternally derived unique complex sSMC resulting in partial trisomy of both chromosomes 9 and 15 associated with intellectual disability.

Case presentation

We characterise a supernumerary derivative chromosome 15: 47,XY,+der(15)t(9;15)(p21.2;q13.2), likely resulting from 3:1 malsegregation during maternal

SUBMITTER: Lemskaya NA 

PROVIDER: S-EPMC8489072 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature