Prenatal diagnosis of complete trisomy 19q
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference16 articles.
1. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
2. First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH
3. Duplication of distal 19q: Clinical report and review
4. Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan
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1. Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature;Human Reproduction Update;2021-05-13
2. Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review;Molecular Cytogenetics;2021-01-15
3. A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report;Yonsei Medical Journal;2017
4. 19q13.33→qter trisomy in a girl with intellectual impairment and seizures;Meta Gene;2014-12
5. Centric Small Supernumerary Marker Chromosomes;Small Supernumerary Marker Chromosomes (sSMC);2011-06-19
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