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Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism

Trisomy 8 is a rare chromosomal anomaly. Approximately 0.7% of spontaneous abortions are caused by trisomy 8. In live births trisomy 8 is almost always associated with mosaicism. So far more than 100 cases have been reported [Karadima et al., 1998; Wisniewska and Mazurek, 2002]. The exact incidence is not known but seems to be rather low. Trisomy 8mosaicismhas adistinct clinicalpicture that hasbeen well described and shows a wide clinical variation. In general, patients have a mild mental retardation with speech delay. Growth can be normal or increased. Limited motion of multiple joints and contractures are frequently observed. Additionally, deep plantar and palmar furrows are present. In MRIs of the brain agenesis of the corpus callosum is frequently seen. Facial features include a prominent forehead, downslantingpalpebral fissures, mild hypertelorism, coarse nose with depressed nasal bridge, micrognathia, and low set ears with full ear lobes. In some patients with trisomy 8 mosaicism skeletal malformations are found such as additional vertebrae, hemivertebrae or butterfly vertebrae, narrow iliac wings, absent or hypoplastic patellae. Most patients show a long and slender trunk with narrow shoulders [Riccardi, 1977; Silengo et al., 1979]. A congenital heart defect is present in about 25% of the described patients, and 10% of the patients have a cleft palate [Wisniewska and Mazurek, 2002]. There does not seem to be a correlation of the clinical phenotype with the amount of trisomic cells in blood and/or skin [Karadima et al., 1998]. In some studies a correlation between trisomy 8 mosaicism and leukemia was noted [Kapaun et al., 1993]. Kwong et al. [1995] showed that trisomy 8 mosaicism is frequent in patients with acute promyelocytic leukemia (17%). We report on a male patient with a trisomy 8 mosaicism who displays in addition to the typical clinical signs hemihyperplasia of the left side of the body and a discordant bone age of both hands. The male patient was born at term after an uneventful pregnancy. His birth weight was 3470 g ( 0.4 SD), the length 53 cm ( 0.3 SD). Postnatally, a left sided cryptorchidism and hydronephrosis without clinical relevance were found. He had no other congenital anomalies. Motor milestones were normal: he was able to sit at 8 months, crawl within 13–14 months and walk within 18 months respectively. Speech development was delayed: he spoke first words at the age of 3 years. Additionally, he has a mild mental retardation. So far no seizures have been mentioned. EEG was unremarkable. The patient was referred to our department at the age of 3 years and 8 months because cytogenetic analysis revealed trisomy 8 mosaicism. At that time his height was 114 cm (þ3.5 SD), weight 20.5 kg (þ0.2 SD), and head circumference 51 cm (median). He showed subtle facial changes including a prominent forehead, hypertelorism, flat nasal root, and low set ears with full ear lobes (Fig. 1). He had a strong and short neck and widely spaced nipples. The trunk was slender with narrow shoulders. In addition, a hemihyperplasia of the left side of the