A CASE OF THE XXXXY CHROMOSOME ANOMALY WITH FOUR MATERNAL X CHROMOSOMES AND DIABETIC GLUCOSE TOLERANCE

Abstract

SUMMARY The 49, XXXXY anomaly was found in a 2 ½‐year‐old boy with signs typical of that anomaly: physical and mental retardation, hypogenitalism and certain mongoloid features. Determination of the Xg blood type in the patient and his parents showed that the X chromosomes were of maternal origin. The most likely explanation of the development of the anomaly is non‐disjunction twice during the meiotic divisions of the egg. The finding of a diabetic glucose tolerance test is discussed in relation to the increased frequency of diabetes mellitus in patients with Klinefelter's syndrome.