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首页> 外文期刊>Clinical dysmorphology >Mosaic monosomy 14: clinical features and recognizable facies.
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Mosaic monosomy 14: clinical features and recognizable facies.

机译：马赛克单体14：临床特征和可识别的相。

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摘要

A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation.
机译：据报道，一名1岁儿童患有14号单体症的临床特征。她的脸部畸形，包括眼球裂，短头畸形和小头畸形，视网膜色素沉着，严重的癫痫发作，卷曲的卷发和逐渐变细的手指。有严重的智力障碍。这是第一个报道的严重的马赛克单体性14病例，镶嵌率高达30％。患有14q缺失或14号单体性症的儿童存在可识别的面部格式塔，并且容易感染，进食困难，癫痫发作和视网膜色素沉着。

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