engleski

Subtelomeric rearrangenets screening in 31 patients with developmental delay including rare loss of 14q

Subtil subtelomeric chromosome rearrangements in children with unexplained combination of developmental delay/mental retardation with dysmorphism and congenital annomalies have been subject of intensive investigation in the past several years. The investigation performed so far revealed wide variation in the frequency of subtelomeric aberrations ranging from 0-35%, with an average detection rate of about 5%. In this study we performed the screening for subtelomeric chromosome rearrangements with multicolor FISH assay in order to determine the frequency of aberrations in our group of children with developmental disabilities and contribute to our knowledge on the clinical significance of subtelomeric rearrangements. This investigation included 31 children with developmental delay, dysmorphic features and/ congenital anomalies, and normal karyotype. The analysis was performed using slides obtained by short-term culture of peripheral blood lymphocytes and multi-colour FISH probe panel ToTelVysion (Vysis). Aberrations of subtelomers were detected in 2 (6.4%) of patients including rare observation of loss of 14q subtelomeric region. Our patient is 5-year old girl with microcephaly, dysmorphic features including high forehead with bitemporal narrowing, epicantus, broad nasal bridge, hypoplasic nares, dysplasic ears, high arched palate, small capred-shaped mouth and receeding chin. She showed mild developmental delay, but detailed clinical and laboratory investigation did not show additional abnormalities. Results of this investigation point out the usefulness of subtelomeric screening and present evidence that a continual cytogenetic analysis facilititas detection of rare and new subtelomeric rearrangements as well as a better understanding of their role in the development of children.

Telomers; chromosome aberrations

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