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Prenatal Diagnosis of XYY Karyotype

Am J Dis Child. 1976;130(11):1295-1296. doi:10.1001/archpedi.1976.02120120129027.
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Numerous reports1-9 have described the occurrence of two or more nondisjunctional events in sibships. However, to our knowledge, this is the first report of the prenatal diagnosis of the XYY karyotype. This occurred in a family who already had a child with the D trisomy.

Report of a Case.—Our contact with this family began March 3, 1969, when the mother, aged 26, gave birth to a male infant with multiple abnormalities, including aniridia, microphthalmia, microcephaly, ectodermal scalp defects, polydactyly, holosystolic murmur, tiny penis and testis, hypertonicity, and obvious inattentiveness. Laboratory studies indicated a buccal smear negative for X-chromatin and a 47,XY, + D karyotype (Fig 1) from a peripheral blood sample. Full counseling concerning this problem was provided at that time. The child is currently living in a long-term residential care facility. Subsequently, the mother had a therapeutic abortion, but two other pregnancies resulted in normal male infants. This


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