De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.

Objective: To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure.

Materials And Methods: A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.

Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction.

Objective: To present a prenatal diagnosis of congenital cytomegalovirus (CMV) infection in a pregnancy with fetal ascites.

Case Report: A 33-year-old, gravida 6, para 2, woman was referred to a hospital at 20 weeks of gestation for management of fetal ascites. The woman had not experienced recent rubella or herpes simplex infections.

Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review.

Objective: To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis.

Case Report: A 20-year-old, gravida 2, para 0, woman was referred to genetic counseling at 17 weeks of gestation because of multiple congenital malformations in the fetus. Level II ultrasound revealed acrania, a ventricular septal defect, an upward-turned face, and omphalocele containing the intestines.