[Partial 11q monosomy and trigonocephaly. A new syndrome].
Partial monosomy 11q occurring de novo and concerning the 11q231 leads to qter region, is reported in a 2-month-old boy. This observation together with three others from the literature allows the individualization of a syndrome characterized by: severe growth retardation: more or less pronounced mental retardation; trigonocephaly; facial dysmorphia.
D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003394:Craniofacial Dysostosis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome
Monosomie partielle 11q et trigonocéphalie. Un nouveau syndrome