March 2022


Chromosome 7p12.3 microduplication

Chromosome 7p12.3 microduplication detected in an infant. The clinical consequences of a duplication in the 7p12 area are virtually unknown. The authors report on an 11-month old girl with an association of anal atresia, perineal hamartoma (which appeared as a polyp-like protrusion in the perineum) and facial dysmorphism. The patient...
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CDO Parent and Caregiver Meet-up this Thursday March 10 2022 8 PM Chromosome Disorder Outreach is inviting you to a scheduled Zoom meeting. Each month CDO holds a parent and caregiver meeting via zoom. We share information about our children and the challenges raising a child with a rare disorder...
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