TY - JOUR T1 - Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation. JF - Journal of Medical Genetics JO - J Med Genet SP - 614 LP - 615 DO - 10.1136/jmg.30.7.614 VL - 30 IS - 7 AU - E Bocian AU - T Mazurczak AU - E Buława AU - H Stańczak AU - G Rowicka Y1 - 1993/07/01 UR - http://jmg.bmj.com/content/30/7/614.abstract N2 - 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. ER -