Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report. [electronic resource]
- Molecular medicine reports Jul 2017
- 201-207 p. digital
Publication Type: Case Reports; Journal Article
1791-3004
10.3892/mmr.2017.6569 doi
Biomarkers Chromosome Aberrations Chromosomes, Human, X Chromosomes, Human, Y Comparative Genomic Hybridization Genetic Association Studies Haploinsufficiency Humans Hypospadias--diagnosis In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Male Mosaicism Phenotype Polymorphism, Single Nucleotide Short Stature Homeobox Protein--genetics