Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome.

摘要

A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Her husband was 43 years of age. Both parents were healthy, and there was no family history of congenital malformations. Amniocentesis revealed mosaicism for a supernumerary isochromosome consisting of two entire short arms of chromosome 12 or i(12)(p10). The karyotype was 47,XX,+i(12p)[16]/ 46,XX[9] derived from 25 colonies of amniocytes, with 64% (16/25) of the amniocytes being +i(12p).