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Updated: Aug 16, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
49, XXXYY chromosome anomaly in a mentally retarded man
Abstract:
A case of 49, XXXYY chromosome anomaly in an adult male is reported. Features of Klinefelter's syndrome are predominant among the clinical findings. Characteristics suggestive of acromegaly have been associated with this chromosomal anomaly. Despite prognathism and an overhanging brow, acromegaly was not present in this case. Psychological traits sometimes reported in males with the XXY and XYY karyotypes were seen in this patient, but the variability of expression of these characteristics calls into question the validity of their correlation with the presence of supernumerary sex chromosomes.
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