RT Journal Article
SR Electronic
T1 Mosaic partial trisomy 17q2.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 641
OP 643
DO 10.1136/jmg.28.9.641
VO 28
IS 9
A1 P A King
A1 A Ghosh
A1 M Tang
YR 1991
UL http://jmg.bmj.com/content/28/9/641.abstract
AB Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities.