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Case Reports
. 2006 Jan-Mar;10(1 Pt 2):199-209.

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

[Article in Polish]
Ewa Obersztyn  1 , Jakub Klapecki, Zofia Helias-Rodzewicz, Ewa Bocian, Tadeusz Mazurczak
Affiliations
  • PMID: 17028389
Case Reports

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

[Article in Polish]
Ewa Obersztyn et al. Med Wieku Rozwoj. 2006 Jan-Mar.

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.

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