[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
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.
Obersztyn
Ewa
E
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. eobersztyn@imid.med.pl
Klapecki
Jakub
J
Helias-Rodzewicz
Zofia
Z
Bocian
Ewa
E
Mazurczak
Tadeusz
T
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*