Discovering a familial Xp11.4 microduplication: Does the mother matter?
Abstract
Interstitial duplications of the short arm of the X chromosome have been rarely described, especially in males. Usually boys present mental retardation, multiple congenital abnormalities and short stature. We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and...
Paper Details
Title
Discovering a familial Xp11.4 microduplication: Does the mother matter?
Published Date
Jun 1, 2018
Journal
Volume
16
Pages
90 - 95
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