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) (wcp 16+,D16Z2+,tel16q+, te116p- )]. 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. (C) 2000 Wiley-Liss, Inc.
|Number of pages||3|
|Journal||American journal of medical genetics|
|Publication status||Published - 2000 Jun 19|
- Maternal meiosis
- Short tandem repeat typing
- Trisomy 16q
ASJC Scopus subject areas