A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect

Authors
Koivisto, PA Koivisto, H Haapala, K Simola, KOJ
Citation
Pa. Koivisto et al., A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect, CLIN DYSMOR, 8(2), 1999, pp. 139-141
Citations number
11
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
2
Year of publication
1999
Pages
139 - 141
Database
ISI
SICI code
0962-8827(199904)8:2<139:ADNDOC>2.0.ZU;2-R
Abstract
We report a rare chromosomal finding in a boy with a pronounced scalp defec t, dysmorphic features and mental retardation. Initially, what seemed to be a normal karyotype by conventional karyotyping was determined to be a de n ovo deletion involving 15(q15.2q21.2) by high resolution banding. Consequen tly, prometaphase analysis is warranted in some cases when conventional kar yotype analysis appears normal. Clin Dysmorphol 8: 139-141 (C) 1999 Lippinc ott Williams & Wilkins.