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P250: “Don’t paint us all with the same brush”: Information needs in adolescents with differences of sex development by Christina Miller; Cindy Buchanan; Susan Howell; Maria Vogiatzi; Victoria Miller; Alexandra Carl; Sophia Strine; Shanlee Davis is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is P250: “Don’t paint us all with the same brush”: Information needs in adolescents with differences of sex development about?

Introduction: The 22q11.2 Deletion Syndrome is thought to result from non-allelic homologous recombination due to the presence of Low Copy Repeats (LCRs) which flank the region and lead to aberrant interchromosomal exchanges. These LCRs (A, B, C, D) are used to define the breakpoints and resultant deletion size. The most common deletion extends from LCR22A-LCR22D and includes TBX1, a gene thought to be responsible for many typically associated phenotypic features, most notably congenital heart disease (CHD), located within the LCR22A-LCR22B region. More distal nested deletions LCR22B-LCR22D and LCR22C-LCR22D include the important CHD and renal developmental driver, CRKL, located between LCR22C-LCR22D. Despite knowledge of the importance of this gene, some clinical laboratories report deletions within these nested distal regions as variants of unknown significance (VOS). We previously reported that 85% of our 1421 patients had at least the LCR22A-LCR22B region deleted, which includes TBX1 and both the N25 and TUPLE FISH probes (Campbell et al, 2018). Here we report findings in 161 patients, from our current overall cohort of 1620 patients, with nested 22q11.2 deletions including LCR

Who reads P250: “Don’t paint us all with the same brush”: Information needs in adolescents with differences of sex development?

Author

Christina Miller; Cindy Buchanan; Susan Howell; Maria Vogiatzi; Victoria Miller; Alexandra Carl; Sophia Strine; Shanlee Davis

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)