MENTAL DEFICIENCY AND KLINEFELTER'S SYNDROME

Norman M Kaplan

doi:10.1016/S0140-6736(61)91280-6

MENTAL DEFICIENCY AND KLINEFELTER'S SYNDROME

Norman M Kaplan

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	1455
Number of pages	1
Journal	The Lancet
Volume	278
Issue number	7218
DOIs	https://doi.org/10.1016/S0140-6736(61)91280-6
State	Published - Dec 30 1961

ASJC Scopus subject areas

Medicine(all)

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10.1016/S0140-6736(61)91280-6

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@article{c4edb35660b741cc96602d78448b735c,

title = "MENTAL DEFICIENCY AND KLINEFELTER'S SYNDROME",

author = "Kaplan, {Norman M}",

note = "Funding Information: ancestry. For many years she had had severe haemolytic anaemia each spring after the ingestion of fava beans. Since the cause of her haemolytic anaemia was ascertained three years ago she has abstained from fava beans and has had no further haemolysis. It is clear from the pedigree in fig. 1 that this patient cannot be homozygous for G.-6-P.D. deficiency, inas- much as she has two normal sons. It is perhaps not generally realised that females heterozygous for this condition often do not have intermediate levels of G.-6-P.D. A pedigree similar to ours has been reported by Gross et al.,s and examination of pedigrees presented by others makes it very clear that pene- trance of this defect in heterozygous females is exceedingly variable. Assay of G.-6-P.D. in the red cells of our propositus by a modification of the method of Kornberg and Horecker has repeatedly revealed no detectable enzyme activity (normal =9-1 ±4-0, average ± 2 standard deviations). Buccal mucosal cells have been studied, and single sex- chromatin bodies identified in approximately 50% of the cells. The karyotype of this patient was determined from peripheral- blood leucocytes by the culture method of Moorehead et al. 4 (fig. 2). It is of interest that this patient{\textquoteright}s karyotype is normal. The very high penetrance of her abnormal gene is not to be explained through an XO or XY sex-chromosome constitution. Further, these studies demonstrate that no morphological abnormality of the X chromosome is associated with this genetic defect in Caucasians. These studies were supported, in part, by U.S.P.H.S. grants H5292, and c5138. We gratefully acknowledge the permission of Dr. Joseph Golenternick to study this patient.",

year = "1961",

month = dec,

day = "30",

doi = "10.1016/S0140-6736(61)91280-6",

language = "English (US)",

volume = "278",

pages = "1455",

journal = "The Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "7218",

}

TY - JOUR

T1 - MENTAL DEFICIENCY AND KLINEFELTER'S SYNDROME

AU - Kaplan, Norman M

N1 - Funding Information: ancestry. For many years she had had severe haemolytic anaemia each spring after the ingestion of fava beans. Since the cause of her haemolytic anaemia was ascertained three years ago she has abstained from fava beans and has had no further haemolysis. It is clear from the pedigree in fig. 1 that this patient cannot be homozygous for G.-6-P.D. deficiency, inas- much as she has two normal sons. It is perhaps not generally realised that females heterozygous for this condition often do not have intermediate levels of G.-6-P.D. A pedigree similar to ours has been reported by Gross et al.,s and examination of pedigrees presented by others makes it very clear that pene- trance of this defect in heterozygous females is exceedingly variable. Assay of G.-6-P.D. in the red cells of our propositus by a modification of the method of Kornberg and Horecker has repeatedly revealed no detectable enzyme activity (normal =9-1 ±4-0, average ± 2 standard deviations). Buccal mucosal cells have been studied, and single sex- chromatin bodies identified in approximately 50% of the cells. The karyotype of this patient was determined from peripheral- blood leucocytes by the culture method of Moorehead et al. 4 (fig. 2). It is of interest that this patient’s karyotype is normal. The very high penetrance of her abnormal gene is not to be explained through an XO or XY sex-chromosome constitution. Further, these studies demonstrate that no morphological abnormality of the X chromosome is associated with this genetic defect in Caucasians. These studies were supported, in part, by U.S.P.H.S. grants H5292, and c5138. We gratefully acknowledge the permission of Dr. Joseph Golenternick to study this patient.

PY - 1961/12/30

Y1 - 1961/12/30

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U2 - 10.1016/S0140-6736(61)91280-6

DO - 10.1016/S0140-6736(61)91280-6

M3 - Letter

AN - SCOPUS:50549189628

SN - 0140-6736

VL - 278

SP - 1455

JO - The Lancet

JF - The Lancet

IS - 7218

ER -

MENTAL DEFICIENCY AND KLINEFELTER'S SYNDROME

ASJC Scopus subject areas

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