Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.

ABSTRACT:

Background

Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin.

Case presentation

A 27-year-old woman was referred for genetic counseling and prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed as Angelman syndrome (AS) with an interstitial deletion in one of the chromosomes 15, carrying a small supernumerary marker chromosome (sSMC). The G-banding results of the woman and her current fetus both were 47,XX,+mar. In this paper, fluorescence in situ hybridization (FISH) results showed that there was no deletion of chromosome 15 in the woman and fetus. We demonstrated that the proband's

SUBMITTER: Hu YA 

PROVIDER: S-EPMC4855799 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature