3p26.3 terminal deletions: a challenge for prenatal genetic counseling
Author:
Affiliation:
1. Laboratory of Medical Genetics; A.O.U. Pisana, Ospedale S. Chiara; Pisa Italy
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference18 articles.
1. Comparing genetic counselor's and patients' perceptions of needs in prenatal chromosomal microarray testing;Sa;Prenat Diagn,2015
2. Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases;Papoulidis;Prenat Diagn,2015
3. Terminal 3p deletions in two families-correlation between molecular karyotype and phenotype;Pohjola;Am J Med Genet,2010
4. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children;Cuoco;Orphanet J Rare Dis,2011
5. Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature;Tassano;Eur J Med Genet,2014
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Investigating mouse motor coordination using quantitative trait locus analysis to model the genetic underpinnings of developmental coordination disorder;2022-06-09
2. CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature;Molecular Genetics & Genomic Medicine;2021-05-31
3. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling;Prenatal Diagnosis;2017-01-30
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