- 期刊
Monosomy of Chromosome 10q26 with Mild Psychomotor Retardation: Report of One Case
以輕微心智發展遲緩為表現的10q26單體症：一病例報告
並列摘要
Partial monosomy of distal l0q is an uncommon chromosomal disorder Its characteristic features include growth retardation, psychomotor delay, facial dysmorphia, congenital heart disease, and anogenital/urinary tract anomalies. Reported here is a female infant at age 4 months who was diagnosed with a de novo deletion of the long arm of chromsome 10, with a breakpoint at l0q26. Using the Bayley scales of infant development II, she was found to have mild psychomotor delay. We also review the related literature of partial deletion of the long arm of chromosome 10. (Acta Paediatr Tw 2002; 43:153-6)
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