title: Prenatally detected double trisomy: Klinefelter and Down syndrome.
abstract: Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis.
authors.affiliation: Departamento de Obstetricia y Ginecologia, Hospital Clínico Universitario de Valencia, Spain. magdasanz@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Sanz-Cortés
authors.forename: F
authors.initials: F
authors.lastname: Raga
authors.forename: A
authors.initials: A
authors.lastname: Cuesta
authors.forename: R
authors.initials: R
authors.lastname: Claramunt
authors.forename: F
authors.initials: F
authors.lastname: Bonilla-Musoles
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis