Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS).

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS).

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early.

Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers.

Background: Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers.

Method: The present authors provided personal medical information cards (PMICs) containing contact and medical information to 52 Canadian adults with 22q11.2 deletion syndrome, a genetic condition associated with intellectual disability.

Germline splicing mutations of CDKN2A predispose to melanoma.

Coding mutations of the CDKN2A gene on chromosome 9p21 cosegregate with 25-60% of familial melanoma cases, but there remains a number of 9p21-linked kindreds that lack germline coding mutations of CDKN2A. We sequenced CDKN2A exons 1alpha, 2, 3, and the adjacent intronic regions in 167 melanoma-prone families (at least two affected first-degree relatives), and detected four splice site variations, three of which cosegregate with the disease. RT-PCR experiments verified that these three variants, including an AGgt to ATgt mutation that demonstrates a founder effect, do affect splicing.