title: De novo trisomy 16p11.2-qter: report of an infant.
abstract: We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: T
authors.initials: T
authors.lastname: Ishii
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Ohyama
authors.forename: M
authors.initials: M
authors.lastname: Kawataki
authors.forename: J
authors.initials: J
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014314:Trisomy