A duplication-deficiency X chromosome in a girl with severe mental retardation

Clinical and cytogenetic findings in a 14-year-old girl with severe mental retardation and partial Turner's syndrome are reported. An anomalous X was observed in the patient's karyotype. On the basis of QFQ, GAG and RBA banding studies, an Xq duplication (q12 leads to qter) and an Xp deficiency (p22 leads to pter) were apparent in this chromosome.