title: [Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects].
abstract: Subtelomeric chromosome rearrangements are a significant cause of severe somatic and psychomotor retardation. Their incidence is estimated as 2.1/10000 liveborns and about 30-50% of the reported aberrations were familial. They result in a wide spectrum of clinical signs and most of reported cases are non-repeatable. Clinical verification of mentally retarded patients suspected of subtelomeric rearrangements requires a special molecular-cytogenetic method: subtelomeric fluorescence in situ hybridisation -- FISH. We present a case of submicroscopic subtelomeric aberration of chromosome 13 - der(13)t(X; 13) in a severely mentally retarded child with congenital defects and dysmorphic features. Detailed clinical characteristics of the proband as well as an attempt of a phenotype- genotype correlation of the identified chromosomal aberration were performed.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa. sekgen@imid.med.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
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; D002882:Chromosomes, Human, Pair 13; D002986:Clinical Trials as Topic; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011597:Psychomotor Performance; D016615:Telomere / Q000648:ultrastructure*