TY - JOUR
T1 - Clinical variability and partial duplication 1q
T2 - A clinical report and literature review
AU - Rosenthal, J.
AU - Abeliovich, D.
AU - Carmi, R.
PY - 1987/1/1
Y1 - 1987/1/1
N2 - A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der 18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25→qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.
AB - A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der 18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25→qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.
UR - http://www.scopus.com/inward/record.url?scp=0023615497&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320270407
DO - 10.1002/ajmg.1320270407
M3 - Review article
C2 - 3122569
AN - SCOPUS:0023615497
SN - 0148-7299
VL - 27
SP - 787
EP - 792
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -