title: Trisomy 9q3 syndrome: a case report and review of the literature.
abstract: A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high-resolution analysis revealed the karyotype to be: 46,XX,-3,+ der(3)t(3;9)(q29;q13) de novo. A phenotype-karyotype correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.
authors.affiliation: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: Y
authors.initials: Y
authors.lastname: Izumikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Goya
authors.forename: M
authors.initials: M
authors.lastname: Gushiken
authors.forename: N
authors.initials: N
authors.lastname: Shiroma
authors.forename: K
authors.initials: K
authors.lastname: Hirayama
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006351:Heart Valves / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D014314:Trisomy