2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia

摘要

The proposita was the product of a 31-week monochorionic-diamniotic twin pregnancy to a 30-year-old G5P1 woman. The pregnancy was complicated by pre-eclampsia at 18 weeks of gestation. Delivery was by Gesarean section for premature rupture of membranes. Her twin sister died at 28 days .with necrotizing enterocolitis. The proposita's medical history comprised a Morgagni-type diaphragmatic defect, patent ductus arteriosus, and an umbilical hernia that were all surgically repaired, failure to thrive, gastrointestinal reflux disease, astigmatism, asthma, and recurrent otitis media requiring tympanostomy tubes. She sat unsupported at 12 months and walked at 2 years of age. She said her first words at 1 year and used phrases between 30 and 36 months of age. At 8 years of age, she was 6-18 months behind her peers.