A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes

A small homozygous microdeletion of 15q1

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

✍ Jun Liao; Stephanie J. DeWard; Suneeta Madan-Khetarpal; Urvashi Surti; Jie Hu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 376 KB 👁 1 views

## Abstract A broad spectrum of neurodevelopmental and psychiatric disorders with variable expressivity has been reported to be associated with 15q13.3 heterozygous microdeletions. Using oligonucleotide‐based array‐CGH analysis, we identified a small homozygous 15q13.3 deletion in a 6‐year‐old girl