دورية أكاديمية

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

التفاصيل البيبلوغرافية
العنوان: Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region
المؤلفون: Yu-qing Pan, Jian-hua Fu
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
بيانات النشر: Frontiers Media S.A., 2021.
سنة النشر: 2021
المجموعة: LCC:Pediatrics
مصطلحات موضوعية: 10p deletion, copy number variation, feeding difficulty, hypocalcemia, psychomotor retardation, Pediatrics, RJ1-570
الوصف: Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3–10p13, which is the second case of large 10p deletion among reported cases thus far.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2296-2360
Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.603666/full; https://doaj.org/toc/2296-2360
DOI: 10.3389/fped.2021.603666
URL الوصول: https://doaj.org/article/a9da0df1148d40809d0db412eb67bb58
رقم الأكسشن: edsdoj.9da0df1148d40809d0db412eb67bb58
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22962360
DOI:10.3389/fped.2021.603666