Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

The 15q11.2 breakpoint (BP) 1–BP2 deletion syndrome is emerging as the most frequent pathogenic copy number variation in humans related to neurodevelopmental diseases, with changes in cognition, behavior, and brain morphology. Previous publications have reported that patients with 15q11.2 BP1–BP2 de...

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Bibliographic Details
Main Authors: Ji Yoon Han, Joonhong Park
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Diagnostics
Subjects:
15q11.2 BP1–BP2 deletion
phenotypic diversity
development delay
intellectual disability
array comparative genomic hybridization
Online Access:https://www.mdpi.com/2075-4418/11/4/722

Internet

https://www.mdpi.com/2075-4418/11/4/722

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