PRENATAL-DIAGNOSIS OF DE-NOVO PROXIMAL INTERSTITIAL DELETION OF 14Q ASSOCIATED WITH CEBOCEPHALY

Authors
CHEN CP LEE CC CHEN LF CHUANG CY JAN SW CHEN BF
Citation
Cp. Chen et al., PRENATAL-DIAGNOSIS OF DE-NOVO PROXIMAL INTERSTITIAL DELETION OF 14Q ASSOCIATED WITH CEBOCEPHALY, Journal of Medical Genetics, 34(9), 1997, pp. 777-778
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
34
Issue
9
Year of publication
1997
Pages
777 - 778
Database
ISI
SICI code
0022-2593(1997)34:9<777:PODPID>2.0.ZU;2-T
Abstract
We report on the prenatal diagnosis of a case of cebocephaly, alobar h oloprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21 .1) or (q13q21.2). This is the third case of holoprosencephaly in asso ciation with a deletion in this region. The present report concerns th e association between prenatal craniofacial development, a holoprosenc ephaly locus, and the chromosomal segment 14q13.