Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome-Reference-Cited by-同舟云学术

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome

Published:2022-01 Issue: Volume:77 Page:100045
ISSN:1807-5932
Container-title:Clinics
language:en
Short-container-title:Clinics

Author:

Chehimi Samar Nasser^ORCID,Almeida Vanessa Tavares^ORCID,Nascimento Amom Mendes^ORCID,Zanardo Évelin Aline^ORCID,de Oliveira Yanca Gasparini^ORCID,Carvalho Gleyson Francisco da Silva^ORCID,Wolff Beatriz Martins^ORCID,Montenegro Marilia Moreira^ORCID,de Assunção Nilson Antônio^ORCID,Kim Chong Ae^ORCID,Kulikowski Leslie Domenici^ORCID

Publisher

Elsevier BV

Subject

General Medicine

Reference27 articles.

1. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features;Niebuhr;Hum Genet,1978

2. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns;Higurashi;Brain Dev,1990

3. Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation;Mainardi;J Med Genet,2001

4. Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories;Hochstenbach;Eur J Hum Genet,2021

5. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet Med,2020

Cited by 2 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. Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples;Scientific Reports;2023-05-31

2. 5p deletion with congenital diaphragmatic hernia: a case report;Journal of Medical Case Reports;2022-10-19