title: 408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.
abstract: 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 Fallot. 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.
authors.affiliation: Department of Obstetrics and Gynecology, Prenatal Diagnostic Service, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Maria
authors.initials: M
authors.lastname: Bellotti
authors.forename: Marcella
authors.initials: M
authors.lastname: Palmisano
authors.forename: Viola
authors.initials: V
authors.lastname: Alesi
authors.forename: Marta
authors.initials: M
authors.lastname: Bertoli
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Bonasoni
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000000981:diagnostic imaging; D055028:Comparative Genomic Hybridization; D005260:Female; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000000981:diagnostic imaging* / Q000235:genetics; D048208:Nuchal Translucency Measurement; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging* / Q000235:genetics; D014314:Trisomy
keywords: array-comparative genomic hybridization; exomphalos; microduplication; prenatal ultrasound diagnosis; tetralogy of Fallot