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.

Si, Yan-Mei

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