Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities
- 1 March 2004
- journal article
- research article
- Published by Elsevier in Genetics in Medicine
- Vol. 6 (2) , 81-89
- https://doi.org/10.1097/01.gim.0000117850.04443.c9
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeJournal of Medical Genetics, 2002
- A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocationJournal of Medical Genetics, 2002
- Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in manJournal of Medical Genetics, 2000
- Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13American Journal of Medical Genetics, 1997
- Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]American Journal of Medical Genetics, 1996
- Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotypeHuman Molecular Genetics, 1995
- A Systematic Search for Uniparental Disomy in Carriers of Chromosome TranslocationsEuropean Journal of Human Genetics, 1994
- Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patientHuman Genetics, 1988
- High Resolution of Human ChromosomesScience, 1976
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960