A case which further refines the critical region for 15q25.2 microduplication phenotypes

Excerpt

The chromosomal region 15q25.2 has been predicted to be a recombination hotspot, by non-allelic homologous recombination (NAHR), based on the presence of several low copy repeats (LCRs) [1]. 15q25.2 microduplications have been rarely reported [2]. We report on a Caucasian 12-year-old girl with a de novo proximal 15q25.2 microduplication. She was the second child of healthy non-consanguineous parents. She was born at full-term with normal weight, length and head circumference after an uneventful pregnancy. The Apgar score was 10 at 1 and 5 min. She had oral feeding difficulties and suffered from hypothermia during the first week. She was able to sit at 9 months and walked at 17 months. Verbal language only started at 5 years. Initial verbal language was marked by poor vocabulary, echolalic behavior and stammering. After the age of 8 years, speech became more fluent and logorrheic, but remained irrelevant or off-topic. She was eligible for special-needs education. At 12 years, she could read fluently and was very talkative. Sleeping difficulties, hyperacusis, spatial and temporal difficulties, disabilities in fine motor skills and anxiety were reported. Normal growth and head circumference, splay feet, knee and elbow bilateral recurvatum, partially scaphoid ears, incomplete bilateral 2–3 toe syndactyly and short fifth fingers were described (Fig. 1).

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