Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
- 15 May 2009
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 149A (6), 1323-1326
- https://doi.org/10.1002/ajmg.a.32857
Abstract
No abstract availableThis publication has 18 references indexed in Scilit:
- Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndromeAmerican Journal of Medical Genetics Part A, 2008
- Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterizationAmerican Journal of Medical Genetics Part A, 2006
- GATA Transcription Factors and Hematological DiseasesThe Tohoku Journal of Experimental Medicine, 2006
- GATA1 in normal and malignant hematopoiesisSeminars in Cell & Developmental Biology, 2005
- Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cellsOncogene, 2004
- Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndromeBlood Cells, Molecules, and Diseases, 2003
- Telomeres: a diagnosis at the end of the chromosomesJournal of Medical Genetics, 2003
- Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1.Proceedings of the National Academy of Sciences of the United States of America, 1996
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNature Genetics, 1995
- Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumorsGenes, Chromosomes and Cancer, 1994