[Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case].
Partial trisomy 7qter due to malsegregation of a familial balanced translocation t(7;8)(q33;p113) is reported in a 2-year-old boy with the following features: psychomotor retardation (IQ = 46); hypotonia; normal; facial asymetry with palpebral fissures slanted downwards and outwards, deeply set eyes, and divergent strabismus.
D002648:Child; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005169:Factor VIII / Q000032:analysis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy
D005169:Factor VIII
Trisomie partielle 7q. Un ou deux syndromes? A propos d'une nouvelle observation