[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]

Ewa Obersztyn; Jakub Klapecki; Zofia Helias-Rodzewicz; Ewa Bocian; Tadeusz Mazurczak

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):199-209.

[Article in Polish]

Authors

Ewa Obersztyn¹, Jakub Klapecki, Zofia Helias-Rodzewicz, Ewa Bocian, Tadeusz Mazurczak

Affiliation

¹ Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. eobersztyn@imid.med.pl

PMID: 17028389

Abstract

A 3-year-old girl with developmental delay, dysmorphic features, hypotonia and microcephaly is presented. Fluorescence in situ hybridization (FISH) with subtelomeric probes (Multiprobe Chromoprobe T System) revealed monosomy and trisomy of subtelomeric regions 4p and 21q respectively. Clinical and pedigree data were analyzed and the phenotype -genotype correlation for partial monosomy 4p and trisomy 21q identified in the proband is also presented.

Publication types

Case Reports
English Abstract
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 21*
Chromosomes, Human, Pair 4*
Developmental Disabilities / genetics*
Female
Humans
In Situ Hybridization, Fluorescence / methods
Intellectual Disability / genetics*
Karyotyping
Pedigree
Telomere / genetics*