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A CASE OF THE XXXXY CHROMOSOME ANOMALY WITH FOUR MATERNAL X CHROMOSOMES AND DIABETIC GLUCOSE TOLERANCE
Author(s) -
CHRISTENSEN M. FJORD,
THERKELSEN A. J.
Publication year - 1970
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1970.tb17710.x
Subject(s) - medicine , mongoloid , anomaly (physics) , meiosis , diabetes mellitus , chromosome , karyotype , endocrinology , genetics , biology , population , physics , environmental health , gene , condensed matter physics
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.