De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon
- 27 September 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 104 (1) , 42-46
- https://doi.org/10.1002/ajmg.10025
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- A case of de novo trisomy 12p syndromeClinical Genetics, 2008
- Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotypeAmerican Journal of Medical Genetics, 1996
- Clinical and molecular cytogenetic observations in three cases of “trisomy 12p syndrome”American Journal of Medical Genetics, 1996
- Cytogenetic and molecular analysis in trisomy 12pAmerican Journal of Medical Genetics, 1996
- Centric fission, centromere‐telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomyClinical Genetics, 1987
- New chromosomal dysmorphic syndromesEuropean Journal of Pediatrics, 1981
- Trisomy 12p syndromeHuman Genetics, 1979
- Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generationsHuman Genetics, 1979
- Partial trisomy 12p due to t(12;21)pat translocationHuman Genetics, 1977
- Identification of partial 12 trisomy by quinacrine fluorescenceThe Journal of Pediatrics, 1973