Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
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文摘

A 1.6 Mb deletion at 11q12.3–q13.1 in a patient with intellectual disability

Childhood facial features resembled Cornelia de Lange syndrome.

Deletions of this region are very rare. Only three patients are reported so far.

NRXN2, PPP2R5B and CDCA5 (soronin) genes may contribute to the clinical features.

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