Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.

Joan Sabria-BackAna Monteagudo-SánchezMarta Sánchez-DelgadoAnne C Ferguson-SmithOlga GómezAfrica Pertierra CartadaJair TenorioJulián NevadoPablo LapunzinaArrate Pereda AguirreCarles Giménez SevillaEstefanía Toro ToroGuiomar Perez de NanclaresDavid Monk

Published in: Journal of medical genetics (2021)

We identify a microdeletion responsible for multigeneration KOS14 and TS14 within a single family where carriers have a 50% risk of transmitting the deletion to their offspring. We show that PGT can successfully be offered to couples with IDs caused by genetic anomalies.

Keyphrases

case report
high fat diet
genome wide
type diabetes
gene expression
skeletal muscle
metabolic syndrome
dna methylation