Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype-Reference-Cited by-同舟云学术

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Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype

Published:2005-07-30 Issue:3 Volume:136A Page:259-264
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zafra de la Rosa G.,Venegas-Vega C.A.,Monroy N.,Contreras-Bucio G.,Friedrich U.,Houman M.,Saad A.,Fernández P.,Kofman-Alfaro S.,Cervantes A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Patient with terminal duplication 3q and terminal deletion 5q: Comparison with the 3q duplication syndrome and distal 5q deletion syndrome;Angle;Am J Med Genet,2003

2. Duplication 3q syndrome: Molecular delineation of the critical region;Aqua;Am J Med Genet,1995

3. Partial monosomy 8p with minimal dysmorphic signs;Blennow;J Med Genet,1990

4. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome;Borck;J Med Genet,2004

5. A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q;Cai;J Med Genet,1997

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1. Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation;American Journal of Medical Genetics Part A;2017-05-09

2. Retrospective karyotype study in mentally retarded patients;Revista da Associação Médica Brasileira;2016-06

3. Secondary Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to Detection of an Unbalanced Derivative Chromosome 12 by SNP Array Analysis;Cytogenetic and Genome Research;2013-12-06

4. 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome;Seizure;2012-05

5. Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation-t(3;15)(q26.33;q26.1);American Journal of Medical Genetics Part A;2011-08-10

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