Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2→q11.21)
- 1 March 2013
- journal article
- case report
- Published by Elsevier BV in Taiwanese Journal of Obstetrics & Gynecology
- Vol. 52 (1), 147-151
- https://doi.org/10.1016/j.tjog.2012.09.037
Abstract
No abstract availableFunding Information
- National Science Council (NSC-99-2628-B-195-001-MY3)
- MacKay Memorial Hospital, Taipei, Taiwan (MMH-E-101-04)
This publication has 16 references indexed in Scilit:
- Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalitiesTaiwanese Journal of Obstetrics & Gynecology, 2012
- Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformationsTaiwanese Journal of Obstetrics & Gynecology, 2011
- Detailed analysis of 22q11.2 with a high density MLPA probe setHuman Mutation, 2007
- MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22qHuman Mutation, 2006
- Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndromeClinical Genetics, 2005
- TBX1 is required for inner ear morphogenesis.Human Molecular Genetics, 2003
- An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14Journal of Medical Genetics, 2000
- Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughterClinical Genetics, 1980
- Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughterClinical Genetics, 1980
- Three Translocations Involving C- or G-group ChromosomesJournal of Medical Genetics, 1973