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The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

ABSTRACT: The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2?Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.

SUBMITTER: Hanafusa H 

PROVIDER: S-EPMC5707190 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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The smallest <i>de novo</i> 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

Hanafusa Hiroaki H   Morisada Naoya N   Ishida Yusuke Y   Sakata Ryosuke R   Morita Keiichi K   Miura Shizu S   Ye Ming Juan MJ   Yamamoto Toshiyuki T   Okamoto Nobuhiko N   Nozu Kandai K   Iijima Kazumoto K  

Human genome variation 20171130

The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdele  ...[more]

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