BROAD-SPECTRUM MOBIUS SYNDROME ASSOCIATED WITH A 1-11 CHROMOSOME-TRANSLOCATION

Citation
Sp. Donahue et al., BROAD-SPECTRUM MOBIUS SYNDROME ASSOCIATED WITH A 1-11 CHROMOSOME-TRANSLOCATION, Ophthalmic paediatrics and genetics, 14(1), 1993, pp. 17-21
Citations number
NO
Categorie Soggetti
Pediatrics,Ophthalmology
ISSN journal
01676784
Volume
14
Issue
1
Year of publication
1993
Pages
17 - 21
Database
ISI
SICI code
0167-6784(1993)14:1<17:BMSAWA>2.0.ZU;2-L
Abstract
The authors report a case of Mobius syndrome with Poland syndrome, cle ft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) t ranslocation in the patient and his phenotypically normal father and b rother. This case extends the spectrum of congenital disorders that ar e associated with Mobius syndrome and raises the possibility of geneti c heterogeneity for the Mobius disorder.