Related Experiment Video
Updated: Jul 16, 2026

Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Skin manifestations in a case of trisomy 16 mosaicism
L B Ousager1, F Brandrup, C Brasch-Andersen
1Department of Clinical Genetics, KKA, Odense University Hospital, SDR. Boulevard 29, DK-5000 Odense C, Denmark. lilian.bomme.ousager@ouh.fyns-amt.dk
Abstract:
We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis. Fibroblast karyotyping from affected skin demonstrated trisomy 16 mosaicism, in contrast to the normal karyotype in unaffected skin and blood lymphocytes. The possible role of trisomy 16 in porokeratosis is discussed.
Related Concept Videos
Meiosis I
Pleiotropy
Pigmentation
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Changes in Skin Color: Clinical Perspectives
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...

