Prenatal detection of interstitial 18p11.31-p11.22 microduplications: Phenotypic diversity and literature review.

Ruixue WangHongguo ZhangLeilei LiFagui YueYuting JiangShibo LiRuizhi Liu

Published in: Prenatal diagnosis (2019)

We described three prenatal cases with 18p11.31-p11.22 microduplications involving part of the LAMA1 locus. There might be phenotypic diversity associated with 18p11.31-p11.22 microduplications. To avoid unnecessary abortions for pregnancies such as these, comprehensive genetic counseling should be offered.

Keyphrases

pregnant women
case report
preterm birth
loop mediated isothermal amplification
muscular dystrophy
copy number
real time pcr
gestational age
gene expression
hiv testing
genome wide association study