title: Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
abstract: A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.
authors.affiliation: Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Bocian
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
authors.forename: E
authors.initials: E
authors.lastname: Buława
authors.forename: H
authors.initials: H
authors.lastname: Stańczak
authors.forename: G
authors.initials: G
authors.lastname: Rowicka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D012303:Ring Chromosomes; D013577:Syndrome; D014314:Trisomy