Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Objective: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). Case report: A 29-year-old, primigravid woman was referred for genetic counseling...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2018-02-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
DYNC2H1
Short-rib polydactyly syndrome type III
SRTD3
Targeted next-generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455917303157

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