MALFORMATIVE SYNDROME WITH TRIGONOCEPHALY, SHALLOW ORBITS, PTOSIS, GROWTH AND MENTAL-RETARDATION - DE-NOVO AUTOSOMAL RECIPROCAL T(9-13)(Q32-Q22) IN A MALE-PATIENT

Authors
FRYNS JP HENDRICKX G
Citation
Jp. Fryns et G. Hendrickx, MALFORMATIVE SYNDROME WITH TRIGONOCEPHALY, SHALLOW ORBITS, PTOSIS, GROWTH AND MENTAL-RETARDATION - DE-NOVO AUTOSOMAL RECIPROCAL T(9-13)(Q32-Q22) IN A MALE-PATIENT, Annales de genetique, 39(1), 1996, pp. 51-53
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
39
Issue
1
Year of publication
1996
Pages
51 - 53
Database
ISI
SICI code
0003-3995(1996)39:1<51:MSWTSO>2.0.ZU;2-V
Abstract
We report a de novo autosomal reciprocal translocation t(9;13)(q32;q22 ) in a mildly to moderately mentally retarded boy. Clinically he prese nted the typical signs and symptoms of a recently delineated malformat ive syndrome characterized by trigonocephaly, shallow orbits, ptosis, mental and growth retardation.