| Literature DB >> 8368259 |
A J van Essen1, C J Schoots, R A van Lingen, M J Mourits, J H Tuerlings, B 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.Entities:
Mesh：
Year: 1993 PMID： 8368259 DOI： 10.1002/ajmg.1320470117
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299