RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 614
OP 615
DO 10.1136/jmg.30.7.614
VO 30
IS 7
A1 E Bocian
A1 T Mazurczak
A1 E Buława
A1 H Stańczak
A1 G Rowicka
YR 1993
UL http://jmg.bmj.com/content/30/7/614.abstract
AB 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.