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PMID: 10353788 Published · ppublish English Case Reports Journal Article

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Journal of medical genetics ·Vol. 36 ·No. 5 ·1999-05-00 ·Pages 405-11

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L

Abstract

Recently much attention has been given to the detection of submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental retardation and dysmorphic features for such rearrangements using a genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The markers were informative for monosomy in both parents at 3661902 loci (40.6%, 95% confidence interval 37.0-44.2%) in the 22 families where DNA was available from both parents. In two of the 27 subjects, submicroscopic chromosomal aberrations were detected. The first patient had a 5-6 Mb deletion of chromosome 18q and the second patient had a 4 Mb deletion of chromosome 1p. The identification of two deletions in 27 cases gave an aberration frequency of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an estimated frequency of 18% if marker informativeness for monosomy was taken into account. This frequency is higher than previous estimates of the number of subtelomeric chromosome abnormalities in children with idiopathic mental retardation (5-10%) although the confidence interval is overlapping. Our study suggests that in spite of the low informativeness of this pilot screening, submicroscopic chromosome aberrations may be a common cause of dysmorphic features and mental retardation.

MeSH Terms
Adolescent Child Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 1/genetics Chromosomes, Human, Pair 18/genetics Genetic Testing Humans In Situ Hybridization, Fluorescence Infant, Newborn Intellectual Disability/genetics Microsatellite Repeats/genetics Monosomy Telomere/genetics
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Slavotinek A
The University Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Rosenberg M
Knight S
Gaunt L
Fergusson W
Killoran C
Clayton-Smith J
Kingston H
Campbell R H
Flint J
Donnai D
Biesecker L
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1999-05-00
Pages
405-11
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1734367
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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