De novo trisomy 16p11.2-qter: Report of an infant

Mitsuo Masuno, Takuma Ishii, Yukichi Tanaka, Makiko Ohyama, Motoyoshi Kawataki, Junko Kimura, Kiyoshi Imaizumi, Yoshikazu Kuroki

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)308-310
Number of pages3
JournalAmerican journal of medical genetics
Issue number5
Publication statusPublished - 2000 Jun 19


  • Maternal meiosis
  • Nondisjunction
  • Short tandem repeat typing
  • Trisomy 16q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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