A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions.

Córdova-Fletes, Carlos

A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions. [electronic resource] - Clinical dysmorphology Jan 2017 - 33-37 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0000000000000159 doi


Brain--pathology
Child
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 13
Comparative Genomic Hybridization
Female
Genetic Association Studies
Humans
Hypopigmentation--diagnosis
Iris Diseases--diagnosis
Magnetic Resonance Imaging
Phenotype
Pigmentation Disorders--diagnosis