Journal of the Korean Pediatric Society 1992;35(5):718-722.
Published online May 15, 1992.
A Case of 8q2 Trisomy
Kwang Ik Song, Hyo Jeoing Kim, Jin Bok Hwang, Chang Ho Han, Hye Li Chung, Young Dae Kwon
Department of Pediatrics, Catholic Hospital, Taegu, Korea
82q2 Trisomy 1례
송광익, 김효정, 황진복, 한창호, 정혜리, 권영대
대구 가톨릭병원 소아과
Abstract
A case of 8q2 trisomy with mental retardation and mutiple congenital anomalies has been presented with the review of related literatures. The patient was 6 month old male child with mild mental and growth retardation, microcephaly, flat occiput, hypertelorism, broad and flat nose, low-set and promient cupped ears, micrognathia, short and wide neck, widely spaced nipples, thoracolumbar scoliosis, single transverse palmar crease, deep palmar and plantar furrows, clinodactyly, overlapped toes with cryptorchism. Chromosomal study showed 46, XY, dup.(8) (q23-qter).
Key Words: 8q2 Trisomy


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