Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report
L Kraoua, M Chaabouni, E Ewers, I Chelly… - European journal of …, 2011 - Elsevier
Derivatives of chromosome 15, often referred to as inv dup (15), represent the most common
supernumerary marker chromosome (SMC). SMC (15) s can be classified into two major
groups according to their length: small SMC (15) and large ones. Depending on the amount
of euchromatin, the carriers may either present with a normal phenotype or with a
recognizable syndrome. Here we describe a patient with severe mental retardation,
epilepsy, dysmorphic features and pigmentary dysplasia. His karyotype was 47, XY,+ mar …
supernumerary marker chromosome (SMC). SMC (15) s can be classified into two major
groups according to their length: small SMC (15) and large ones. Depending on the amount
of euchromatin, the carriers may either present with a normal phenotype or with a
recognizable syndrome. Here we describe a patient with severe mental retardation,
epilepsy, dysmorphic features and pigmentary dysplasia. His karyotype was 47, XY,+ mar …