Trisomy 9q3 syndrome: a case report and review of the literature.
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.
Naritomi
K
K
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Izumikawa
Y
Y
Goya
Y
Y
Gushiken
M
M
Shiroma
N
N
Hirayama
K
K
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