Mild developmental delay due to ring chromosome 19 mosaicism.

Abstract:

:Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.

journal_name

Dev Med Child Neurol

authors

Vaz I,Larkins SA,Norman A,Green SH

doi

10.1017/s0012162299000092

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

48-50

issue

1

eissn

0012-1622

issn

1469-8749

journal_volume

41

pub_type

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