An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Boutry-Kryza, Nadia

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p. [electronic resource] - American journal of medical genetics. Part A Feb 2012 - 400-5 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.34222 doi


Body Dysmorphic Disorders--diagnosis
Child
Chromosome Breakpoints
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosomes, Human, Pair 17--genetics
Comparative Genomic Hybridization
Haploinsufficiency--genetics
Hearing Loss--diagnosis
Humans
Intellectual Disability--diagnosis
Mediator Complex--genetics