|
|||||
|
|
Isochromosome 18q in a girl with holoprosencephaly,DiGeorge anomaly,and streak ovaries |
|
| Authors: | Anthonie J. van Essen Coen J. F. Schoots Richard A. van Lingen Marian J. E. Mourits Joep H. A. M. Tuerlings Bieke Leegte |
| Abstract: | We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley-Liss, Inc. |
| Keywords: | monosomy 18p trisomy 18q congenital anomalies |