To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.

 
 

Description

In this report, we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of a portion of 17p13.3 at least 195 Kb in size, not present in either parent. This area of chromosome 17 is associated with Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS), but these conditions are related predominantly to PAFAH1B1, which is not included in the patient’s deletion.

Disciplines

Medical Education | Medical Sciences | Medicine and Health Sciences | Primary Care

Document Type

Event

Share

COinS
 

De Novo Microdeletion Spanning YWHAE and CRK in an Individual with Intellectual Disability and Stunted Growth

In this report, we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of a portion of 17p13.3 at least 195 Kb in size, not present in either parent. This area of chromosome 17 is associated with Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS), but these conditions are related predominantly to PAFAH1B1, which is not included in the patient’s deletion.