ANENCEPHALY WITH HOLOPROSENCEPHALIC FACIES DUE TO RING CHROMOSOME-18

Authors
BIRD LM PRETORIUS DH MENDOZA AE JONES MC
Citation
Lm. Bird et al., ANENCEPHALY WITH HOLOPROSENCEPHALIC FACIES DUE TO RING CHROMOSOME-18, Clinical dysmorphology, 6(4), 1997, pp. 351-358
Citations number
70
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
6
Issue
4
Year of publication
1997
Pages
351 - 358
Database
ISI
SICI code
0962-8827(1997)6:4<351:AWHFDT>2.0.ZU;2-A
Abstract
An anencephalic infant with holoprosencephalic facies and ring chromos ome 18 [r(18)] is reported with review of the pertinent literature. Al though the association of anencephaly and holoprosencephalic facies is well established this is the first instance of an accompanying karyot ypic abnormality. Review of other r(18) cases suggests that this is no t a coincidental finding. Karyotype analysis appears warranted in case s of anencephaly with holoprosencephalic facies.