engleski

De novo interstitial deletion of 8p21-p23 in a patient with dysmorphic features and normal development

We describe an 26-month-old boy who presented with dysmorphic features including microcephaly, elongated face with high anterior hairline, prominent forehead, temporal narrowing, almond shaped palpebral fissures, slight hypotelorism and epicanthus. He had wide nasal bridge, short nose, low-set, posteriorly rotated ears with overfolded helices, high arched palate and small mandible. Cytogenetic studies on high-resolution G and R banding showed that one 8p was half of the normal length in all metaphases and the patients karyotype was interpreted as 46, XY, del(8)(p21). His psychomotor and somatic development was within normal range, and detailed clinical examination did not reveal any malformation usually associated with 8p deletion syndrome. Therefore cytogenetic reassesment of breakpoint positions was performed by fluorescent in situ hybridisation with chromosome 8a-satellite (D8ZZ) and 8p23-pter (D8S596)(ONCOR) probes. His final karyotype was designated as 46, XY, del(8)(pter--p23::p23--qter). The revised brakpoints correlated better with a mild phenotype, further supporting evidence that the critical region for heart defect in 8p deletion syndrome is at the band 8p23. Our study suggests the need for cytogenetic studies using FISH analysis in patients were there is a deviation from the expected clinical spectrum in order to refine karyotype-phenotype correlation and to further characterse critical segment region.

chromosome 8; interstitial deletions

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