A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure.

Abstract excerpt

Here we report the first male case of a novel Xq22.1 deletion. An 8-week-old boy with multiple congenital abnormalities and respiratory failure was referred to the Mayo Clinic Cytogenetics laboratory for testing. Chromosomal microarray analysis identified a novel 1.1 Mb deletion at Xq22.1. A similar deletion has only been described once in the literature in a female patient and her mother; both have intellectual...

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• Share to Abnormalities, Multiple
• Share to Chromosomes, Human, X
• Share to Congenital Abnormalities