Microdeletions of chromosome 6q are associated with different phenotypes and, to date, about 100 patients have been described in the literature. Despite the lack of a definite phenotype-genotype correlation, Hopkin et al. proposed a classification according to the location of the deletion in the long arm of chromosome 6: proximal (6q11–q16), interstitial (6q15–q25), and terminal (6q25-qter) [1–3]. Clinically, patients with interstitial deletions usually show facial and body dysmorphisms, variable degrees of developmental delay, limbs and visceral malformations, and, notably, Prader–Willi (PWS)-like features, including obesity, hyperphagia, and hypotonia [1–3].
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MAY
MAY
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