Biomaterial Database

Phylloid pigmentary pattern with mosaic trisomy 13. 1997

D Horn, and M Rommeck, and D Sommer, and H Körner

Institute of Human Genetics, Humboldt University, Berlin, Germany.

In most patients with hypomelanosis of Ito, the hypopigmentation is characterized by narrow bands following the lines of Blaschko. We report a 13-year-old severely retarded girl with leaf-shaped patches of hypopigmentation on the back together with short stature, scoliosis, facial dysmorphism, and asymmetrical leg length. The cytogenetic examination of both lymphocytes and fibroblasts demonstrated a mosaicism of 46,XX/47,XX+13. This result was confirmed by in situ hybridization using a chromosome 13-specific library in interphase cells. The pigmentary disturbance of our patient was similar to the phylloid pattern (type 3) of the classification of pigmentary patterns postulated by Happle. This type has been described in four patients so far, along with additional anomalies and a chromosomal mosaisicm in two patients.

UI	MeSH Term	Description	Entries
D009030	Mosaicism	The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002882	Chromosomes, Human, Pair 13	A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.	Chromosome 13
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D014314	Trisomy	The possession of a third chromosome of any one type in an otherwise diploid cell.	Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D017496	Hypopigmentation	A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.	Hypomelanosis,Hypomelanoses