The Chromosome 9p syndrome with microgenitalia
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概要
- 論文の詳細を見る
We report an 18 year old male with monosomy 9p syndrome. Clinical features included microgenetalia, mental retardation with microcephaly and dysmorphic features consistent with those of the known 9p syndrome. Endocrinological investigations indicated gonadal failure with raised FSH and LH concentrations and a low testosterone level. On examination the SRY gene was found to be normal hence we support previous reports which suggest that there is a gene on 9p involved in early testes development. Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome.,
- 横浜国立大学の論文
著者
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Millar Anne
Department Of Rehabilitation School Of Medicine Yokohama City University
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Matsuishi Takeshi
横浜国立大学教育人間科学部障害児教育講座