A case having an interstitial deletion of the long arm of chromosome 12
スポンサーリンク
概要
- 論文の詳細を見る
During chromosomal screening of mental retardates, an 11-month-old male infant having a chromosome 12 with an unusually shortened long arm was detected. His clinical findings were mentally and physically delayed development, short stature, light-brown colored hair, frontal bossing, ear deformity, simian crease and short 5th finger of the left. The chromosome formula of the propositus was 46, XY, del(12) (q21.2q22). The chromosomal examinations of the parents showed normal karyotypes.
- 財団法人染色体学会の論文
著者
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Saito T.
Department of Cardiology Kokura Memorial Hospital
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Watanabe Y.
The Kadotani Medical Research Foundation
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Sawano K.
Department Of Pediatrics Hiroshima Prefectural Rehabilitation Center
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KADOTANI T.
The Kadotani Medical Research Foundation
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Minatozaki K.
Department Of Pediatrics Hiroshima Prefectural Rehabilitation Center
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Saito T.
The Kadotani Medical Research Foundation
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