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•47,XYY syndrome is a frequent sex chromosome aneuploidy. •Overview of characteristic symptoms of 47,XXY •First report of 47,XYY and microcephaly in a preterm child •Brief differential diagnosis of microcephaly
Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We report a de novo 12p12.2–p11.22 deletion of 9.2Mb detected by array CGH analysis in a boy with global...
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