Klinefelter's syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. 1988

A D Carothers, and G Filippi
Medical Research Council, Western General Hospital, Edinburgh, UK.

Data on 151 non-mosaic 47,XXY males from Sardinia, previously reported by Filippi (1986), were analysed for associations with parental ages at birth, sib order and sex ratio among siblings. The results confirm those of the earlier Scottish-based studies in that: (1) there was a significant increase in risk of 47,XXY livebirths at advanced parental ages; (2) maternal age, and maternal age alone, was sufficient to explain the effect; (3) there were no independent effects of paternal age or sib order once maternal age had been taken into account; (4) there was no evidence of any distortion of the sex ratio among siblings. Estimates of relative risk at different maternal ages were compatible with those from the Scottish studies, and pooled estimates are therefore derived. They suggest, for example, that the risk at maternal age 40 years is 2-3 times that at age 30 years. In 33 cases, the parental origin of the supernumerary X chromosome was determined by analysing the segregation of genetic markers. The mean parental ages of 19 'maternal' cases were significantly raised above those of controls, whereas those of 14 'paternal' cases were slightly, and marginally significantly, reduced. The conclusions were essentially unaffected by whether the Sardinian population, the siblings of cases or a group of 94 unrelated Sardinian males were used as controls.

UI MeSH Term Description Entries
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D007713 Klinefelter Syndrome A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). 48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes
D008297 Male Males
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
D010290 Parents Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D010331 Paternal Age Age of the biological father. Age, Paternal,Ages, Paternal,Paternal Ages
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor

Related Publications

A D Carothers, and G Filippi
January 1969, Human heredity,
A D Carothers, and G Filippi
May 1972, The American journal of psychiatry,
A D Carothers, and G Filippi
January 2003, Human reproduction update,
A D Carothers, and G Filippi
April 1983, Journal of medical genetics,
A D Carothers, and G Filippi
November 1972, Archives of internal medicine,
A D Carothers, and G Filippi
January 1972, Endokrynologia Polska,
A D Carothers, and G Filippi
January 1984, Brain and cognition,
A D Carothers, and G Filippi
October 1982, Fertility and sterility,
A D Carothers, and G Filippi
January 1971, Studii si cercetari de endocrinologie,
A D Carothers, and G Filippi
November 2006, The British journal of psychiatry : the journal of mental science,
Copied contents to your clipboard!