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Arch Pathol Lab Med. 2004 Mar;128(3):e44-5.

47,XXY with associated bilateral renal agenesis.

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Pathology Department, Pennsylvania Hospital, Philadelphia 19107, USA.


We describe the case of a 36-week gestational-age male stillborn with bilateral renal agenesis and a 47,XXY karyotype, as well as features of Potter sequence. No other congenital abnormalities were noted. Severe oligohydramnios was diagnosed prenatally at 30 weeks, and cytogenetic analysis was performed postmortem. Urinary tract anomalies are uncommon in association with Klinefelter syndrome. Unilateral renal agenesis has been described. We describe, to our knowledge, the first case of bilateral renal agenesis in association with 47,XXY.

[Indexed for MEDLINE]

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