Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review.

ABSTRACT:

Background

Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.

Case presentation

Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was p

SUBMITTER: Zhang X 

PROVIDER: S-EPMC7809756 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature