Premium
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of F allot and normal karyotype: A genetic counseling dilemma in paternal carrier status
Author(s) -
Tonni Gabriele,
Bellotti Maria,
Palmisano Marcella,
Alesi Viola,
Bertoli Marta,
Bonasoni Maria Paola
Publication year - 2015
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12078
Subject(s) - karyotype , tetralogy of fallot , comparative genomic hybridization , medicine , prenatal diagnosis , fetus , genetic counseling , chromosome , chorionic villus sampling , biology , genetics , obstetrics , pathology , pregnancy , gene , heart disease
Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of F allot. Array comparative genomic hybridization (a‐ CGH ) further demonstrated a 408 kb 15q11.2 microduplication, with the father‐to‐be as healthy carrier. This is the first case of an association between 15q11.2 micorduplication and fetal sonographic anomalies. Genetic counseling for estimation of recurrent risk of congenital anomalies is discussed.