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Summary: Pure interstitial duplication of chromosome 7q (7q3L2-*q33) in a 4-yearold girl with growth restriction, short stature, speech delay and mental retardation: We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient.
Key-words: 7q31.2-»q33 - Chromosome 7q duplication - ING3 - LEP - Growth restriction - Strabismus.
INTRODUCTION
Clinical cases with pure partial trisomy of 7q are rare. To date, at least 18 cases have been reported (20). Novales et al. (17) suggested that three possible distinct clinical syndromes can be established according to three segments, namely 7q21 or q22- >q31, 7q31- >qter and 7q32-»qter, and the patients with dup(7)(q21 or q22->q31) are associated with more abnormalities than those with dup(7)(7q3 1 ->qter) or dup(7)(7q32->qter). Here, we present a case where the smallest portion of the long arm of chromosome 7 (7q31.2-»q33) is duplicated with some distinct clinical manifestations.
CLINICAL REPORT
The 4-year-old girl was the first child of healthy and non-consanguineous parents. When she was born, the mother was 28 and the father 32 years old. The family history was unremarkable. She was delivered at 38 weeks of gestation with a body weight of 2,492 g (< 3rd centile), a length of 44 cm (< 3rd centile), a head circumference of 33.5 cm (15-50th centile) and a chest circumference of 30.5 cm (5th centile). She underwent herniorrhaphy for bilateral inguinal hernias at 15 months of age. When examined at 16 months of age, she manifested hypotonia, developmental delay, unstable gait, mild horizontal nystagmus, convergent strabismus of the right eye and craniofacial dysmorphism including macrocephaly, frontal bossing, hypertelorism, epicanthic folds, a depressed nasal bridge, micrognathia, a short neck and low-set ears (Fig. 1). Her body weight was 10 kg (50th centile) and length 71 cm (< 3rd centile). When examined at 2 years of age, she was found to have intellectual disability, speech delay, language difficulties and poor weight gain. Her body length was 79.6 cm (< 3rd centile),...