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

@article{Masuno2000DeNT,
  title={De novo trisomy 16p11.2-qter: report of an infant.},
  author={Mitsuo Masuno and Takuma Ishii and Yukichi Tanaka and Makiko Ohyama and Motoyoshi Kawataki and Junko Kimura and Kiyoshi Imaizumi and Yoshikazu Kuroki},
  journal={American journal of medical genetics},
  year={2000},
  volume={92 5},
  pages={308-10}
}
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… CONTINUE READING