New published article: Bensaid et al., 2024

Congratulations to Dr. Bensaid, Dr Sanlaville, and colleagues on the publication of their article “Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions” in the 𝐴𝑚 𝐽 𝑀𝑒𝑑 𝐺𝑒𝑛𝑒𝑡 𝐴. We are delighted to have contributed to the success of this article!

𝐈𝐧𝐭𝐞𝐫𝐬𝐭𝐢𝐭𝐢𝐚𝐥 𝐩𝐫𝐨𝐱𝐢𝐦𝐚𝐥 𝐝𝐞𝐥𝐞𝐭𝐢𝐨𝐧𝐬 of the long arm of 𝐜𝐡𝐫𝐨𝐦𝐨𝐬𝐨𝐦𝐞 𝟐𝟎 (20q11.2q12) are rare, with reported cases exhibiting growth retardation, intellectual disabilities, and various dysmorphisms. 𝐂𝐡𝐫𝐨𝐦𝐨𝐬𝐨𝐦𝐚𝐥 𝐦𝐢𝐜𝐫𝐨𝐚𝐫𝐫𝐚𝐲 𝐚𝐧𝐚𝐥𝐲𝐬𝐢𝐬 (CMA) has 𝐢𝐦𝐩𝐫𝐨𝐯𝐞𝐝 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐭𝐢𝐜 𝐜𝐚𝐩𝐚𝐛𝐢𝐥𝐢𝐭𝐢𝐞𝐬, leading to the identification of two critical regions in five new unrelated patients.

CMA revealed interstitial 20q microdeletions in the new cases, ranging from 1.7 to 10.35 Mb. Two 𝐜𝐫𝐢𝐭𝐢𝐜𝐚𝐥 𝐫𝐞𝐠𝐢𝐨𝐧𝐬 𝐰𝐞𝐫𝐞 𝐢𝐝𝐞𝐧𝐭𝐢𝐟𝐢𝐞𝐝: 20q11.22 and 20q12, involving key genes. Comparisons with previous cases highlighted 𝐝𝐢𝐬𝐭𝐢𝐧𝐜𝐭 𝐩𝐡𝐞𝐧𝐨𝐭𝐲𝐩𝐢𝐜 𝐝𝐢𝐟𝐟𝐞𝐫𝐞𝐧𝐜𝐞𝐬 𝐛𝐞𝐭𝐰𝐞𝐞𝐧 𝐝𝐞𝐥𝐞𝐭𝐢𝐨𝐧𝐬 in these regions, including craniofacial dysmorphisms and extremity anomalies in 20q11.2 deletions, and neurological features in 20q12 deletions.

The findings suggest 𝐝𝐢𝐬𝐭𝐢𝐧𝐜𝐭 𝐩𝐡𝐞𝐧𝐨𝐭𝐲𝐩𝐢𝐜 𝐦𝐚𝐧𝐢𝐟𝐞𝐬𝐭𝐚𝐭𝐢𝐨𝐧𝐬 associated with 𝐝𝐞𝐥𝐞𝐭𝐢𝐨𝐧𝐬 𝐢𝐧 𝟐𝟎𝐪𝟏𝟏.𝟐 𝐚𝐧𝐝 𝟐𝟎𝐪𝟏𝟐 𝐫𝐞𝐠𝐢𝐨𝐧𝐬. This differentiation emphasizes the 𝐧𝐞𝐞𝐝 𝐟𝐨𝐫 𝐬𝐩𝐞𝐜𝐢𝐟𝐢𝐜 𝐜𝐥𝐢𝐧𝐢𝐜𝐚𝐥 𝐟𝐨𝐥𝐥𝐨𝐰-𝐮𝐩𝐬 for patients with 20q12 deletions, particularly for 𝐞𝐚𝐫𝐥𝐲 𝐞𝐩𝐢𝐥𝐞𝐩𝐬𝐲 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬 𝐚𝐧𝐝 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭. The article is already available on the journal's website! DOI: http:/doi.org/𝟏𝟎.𝟏𝟎𝟎𝟐/𝐚𝐣𝐦𝐠.𝐚.𝟔𝟑𝟓𝟖𝟎