Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient.
We report a de novo autosomal reciprocal translocation t(9;13)(q32;q22) in a mildly to moderately mentally retarded boy. Clinically he presented the typical signs and symptoms of a recently delineated malformative syndrome characterized by trigonocephaly, shallow orbits, ptosis, mental and growth retardation.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Hendrickx
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D002899:Chromosomes, Human, Pair 9; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009915:Orbit / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic