Article
Mosaic monosomy 14: clinical features and recognizable facies.
Clinical dysmorphology - 1 Jul 2004
McConnell V, Derham R, McManus D, Morrison P J
Abstract excerpt
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...
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