Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?

Veronica OrtegaRaymond J LouieMelanie A JonesAlka ChaubeyBarbara R DuPontAllison BrittJoseph RayScott D McLeanRebecca O LittlejohnGopalrao V N Velagaleti

Published in: Molecular cytogenetics (2021)

Based on our cases, we suggest that CN-AOH on chromosome 15, even if it does not involve the critical region of 15q12q13, should warrant additional studies for diagnosis of Prader-Willi/Angelman syndromes.

Keyphrases

growth hormone
copy number
lymph node metastasis
minimally invasive
case control