Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17.

Authors

Paolo Prontera¹, Gabriela Stangoni, Carmela Ardisia, Daniela Rogaia, Amedea Mencarelli, Emilio Donti

Affiliation

¹ Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and S. Maria della Misericordia Hospital, Perugia, Italy.

PMID: 21416586
DOI: 10.1002/ajmg.a.33817

No abstract available

Publication types

Case Reports

MeSH terms

Anophthalmos / genetics*
Cauda Equina / abnormalities
Child
Chromosomes, Human, Pair 2 / genetics*
Cytogenetic Analysis
Ectromelia / genetics
Hirschsprung Disease / genetics*
Humans
Male
Mosaicism*
Phenotype
Trisomy / genetics*

Supplementary concepts

Rudd Klimek syndrome