Medknow Publications on behalf of Indian Society of Human Genetics
Abstract
We present a pregnant woman with mental retardation and mosaic for ring
18 referred for prenatal diagnosis. Major clinical features included
short stature with clinodactyly in feet, foot deformity and club feet,
hypotonia, kyphosis, and absence of breast development, low set ears,
high arched palate, dental decay and speech disorder. Prenatal
diagnosis was carried. Using amniocentesis. The fetus had a normal
karyotype described as 46,XX. The fetus was evaluated for clinical
features after delivery; she was healthy with no abnormal clinical
characterizations