Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Chuan ZhangShengju HaoQinghua ZhangFurong LiuBingbo ZhouFeng XuanWang XingXue ChenYan WangPanpan MaZongfu CaoXu Ma

Published in: Journal of clinical laboratory analysis (2020)

This is the first report of uniparental disomy 7 leading to SRS and Pendred syndrome. Patients with intrauterine growth retardation or those born small for gestational age and exhibiting postnatal growth failure should undergo molecular testing to reach a clinical diagnosis.

Keyphrases

gestational age
birth weight
case report
preterm birth
gold nanoparticles
preterm infants
pregnant women
gene expression
dna methylation
low birth weight