TY - JOUR
T1 - De novo trisomy 16p11.2-qter
T2 - Report of an infant
AU - Masuno, Mitsuo
AU - Ishii, Takuma
AU - Tanaka, Yukichi
AU - Ohyama, Makiko
AU - Kawataki, Motoyoshi
AU - Kimura, Junko
AU - Imaizumi, Kiyoshi
AU - Kuroki, Yoshikazu
PY - 2000/6/19
Y1 - 2000/6/19
N2 - 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.
AB - 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.
KW - Maternal meiosis
KW - Nondisjunction
KW - Short tandem repeat typing
KW - Trisomy 16q
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U2 - 10.1002/1096-8628(20000619)92:5<308::AID-AJMG3>3.0.CO;2-6
DO - 10.1002/1096-8628(20000619)92:5<308::AID-AJMG3>3.0.CO;2-6
M3 - Article
C2 - 10861658
AN - SCOPUS:0034686414
SN - 1552-4825
VL - 92
SP - 308
EP - 310
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -