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Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: A possible new feature?
Journal
Clinical Dysmorphology
Journal Volume
13
Journal Issue
2
Pages
107-109
Date Issued
2004
Author(s)
MING CHEN
Abstract
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. ? 2004 Lippincott Williams & Wilkins.
Subjects
Deletion 1p36 syndrome; Derivative chromosome; Monosomy 1p36; Redundant skin; Satellited chromosome
SDGs
Other Subjects
article; case report; chromosome analysis; clinical feature; developmental disorder; face dysmorphia; female; growth retardation; human; microsatellite marker; monosomy; monosomy 1; neck; preschool child; priority journal; skin disease; chromosome 1; congenital malformation; face; fluorescence in situ hybridization; genetics; infant; letter; monosomy; neck; pathology; skin; Chromosomes, Human, Pair 1; Face; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Monosomy; Neck; Skin
Type
journal article