engleski

Clinical and cytogenetic findings in a patient with partial 8p duplication

We report on a 3-year old girl with an interstitial duplication of the short arm of chromosome 8, presenting with facial dysmorphism, agenesis of the corpus callosum and moderate psychomotor retardation. She was born at term after an uneventful pregnancy. The parents were healthy and nonconsanguineous. Her birth weight was 3350 g ; birth length 50 cm. Dysmorphic features were already noted at birth. At 3-years of age the weight and the height were 14 kg and 97 cm respectively (75 centile). Head circumference was 51.5 cm (+ 1 SD). She had dolichocephaly and peculiar face. Dysmorphic features included high and prominent forehead, downward slanting of palpebral fissures, sunken eyes, broad nasal root, hypoplastic nasal alae, short and prominent philtrum, large mouth, high arched palate, low set, large, poorly formed ears, and microretrognathia. Neurological examination revealed moderate psychomotor delay, convergent strabismus, and hypotonia. Magnetic resonance of brain showed agenesis of the corpus callosum, and ophthalmologic examination hypermetropia and astigmatism. Chromosomal analysis using R and high-resolution G banding of the peripheral blood lymphocytes showed elongated short arm of chromosome 8. Chromosomes of the parents and healthy sister were normal. The cytogenetic aberration was further delineated with fluorescence in situ hybridization (FISH) studies using whole-chromosome 8 painting and 8p/8q subtelomeric probes. The duplication was characterized as 46, XX, dup(8)(p21.3p23.1). Published reports on patients with duplication of region 8p21.3--23.1 reveal variable clinical manifestations. We compare features seen in our patient with those commonly seen in cases having direct or inverted duplication of 8p.

chromosome 8; duplication 8p

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