Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference16 articles.
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2. Partial monosomy 8p with minimal dysmorphic signs;Blennow;J Med Genet,1990
3. A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8;Claeys;Am J Med Genet,1997
4. Deletion 8p syndrome;Digilio;Am J Med Genet,1998
5. Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies;Delobel;Hum Genet,1998
Cited by 5 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. Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities;American Journal of Medical Genetics Part A;2017-12
2. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder;PLOS ONE;2017-01-24
3. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype;American Journal of Medical Genetics Part A;2013-03-12
4. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication;American Journal of Medical Genetics Part A;2012-02-02
5. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia;American Journal of Medical Genetics Part A;2009-07-15
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