title: [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
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.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. eobersztyn@imid.med.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Jakub
authors.initials: J
authors.lastname: Klapecki
authors.forename: Zofia
authors.initials: Z
authors.lastname: Helias-Rodzewicz
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21; D002894:Chromosomes, Human, Pair 4; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010375:Pedigree; D016615:Telomere / Q000235:genetics*