Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: a possible new feature?
We present a case of monosomy 1p36 who, in addition to delayed growth and development, and mild facial dysmorphism also had redundant skin over the nape. Chromosome analysis showed that the monosomy 1p36 was caused by a de-novo satellited derivative chromosome. We propose that the redundant skin over the nape should be considered as a feature of this condition.
Wang
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BT
Center for Medical Genetics, Changhua Christian Hospital, Changhua 500, Taiwan Department of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Chen
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M
D002878:Chromosomes, Human, Pair 1; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009006:Monosomy / Q000175:diagnosis / Q000235:genetics*; D009333:Neck; D012867:Skin / Q000473:pathology*