Klinefelter's Syndrome and Mongolism in the Same Person

Lehmann, Orla; Forssman, Hans

doi:10.1111/j.1651-2227.1960.tb07769.x

Cited by 44 publications

(4 citation statements)

References 5 publications

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“…Data on the proportion of DAs among all cases with trisomy 21 are presented in Table I and grouped to facilitate calculation of the expected figures in accordance to the data from Hassold Lanman et al [1960] Case report 1 20 Lehmann and Forssman [1960] Case report 1 41 van Gelderen and Case report 1 19 Hustinx et al [1961] Case report 1 (twins) 43 Hamerton et al [1962] Sex chromatin survey in mentally defective children Iselius and Lindsten [1986] DS survey 1 40-44 2 3 0 -3 4 Rogers et al [1986] Case report 1 43 Dicholkar [1989] Case report 1 37 44 Brahe et al [1990] Case report 1 Novosel [1990] Case Murken et al [1972] Case report 1 26 30 Leary et al [1975] Case report 1 36 34 46,XX 46, XY Mikkelsen et al [1976] DS survey 1 et al [1996]. However, it should be noted that the group of postnatal diagnoses in Table I is not completely comparable to the ''live birth'' group from Hassold et al [1996], because of the strong impact of prenatal diagnosis in the population of England and Wales.…”

Section: Frequency Of Carriers Of Das Among All Cases With Trisomy 21mentioning

confidence: 96%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically determined. Data collected from the National Down syndrome Cytogenetic Register (NDSCR) in England and Wales and from the literature indicate that the frequencies of all nonmosaic DAs, except for 48,XXY,+21, are lower than expected, probably because of strong intrauterine selection against such pregnancies. Collectively, we identified 52 cases of nonmosaic 48,XXY,+21; 28 cases of 48,XYY,+21; and 14 cases of 48,XXX,+21 in liveborns and 13 cases of 48,XXY,+21; four cases of 48,XYY,+21; and two cases of 48,XXX,+21 after prenatal diagnoses. Among these cases, analysis of the published unbiased cytogenetic surveys of liveborn DS revealed 24 cases of 48,XXY,+21; nine cases of 48,XYY,+21; and seven cases of 48,XXX,+21. These figures are different from the expected proportion of 1:1:1 (P < 0.001), with carriers of XXY overrepresented in the group of carriers of DA. Mechanisms put forth to account for the higher occurrence of 48,XXY,+21 may include greater accessibility of disomic ovum to Y-carrying sperm, and promotion of NDJ in ovum by Y-bearing sperm. 48,XXY,+21 DA was found to be age-dependent, as the proportion of mothers over age 35 (x = 33.0) was increased over the general population. This is in contrast to the apparently age-independent 48,XYY,+21 DA, with a mean maternal age of 24.7 (P < 0.001). Paternal ages were also remarkably different between the groups, with a mean age of 37.9 in 48,XXY,+21 cases and a mean age of 27.9 in 48,XYY,+21 cases (P < 0.01). Maternal age-related factors, rather than genetic predisposition, may play a more important role in the etiology of the most common DA, 48,XXY,+21.

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Section: Frequency Of Carriers Of Das Among All Cases With Trisomy 21mentioning

confidence: 96%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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“…Buchanan [1975], Court‐Brown et al [1964], Erdtmann et al [1971], Ford et al [1959], Gelderen and Hustinx [1961], Grouchy et al [1965], Hamerton et al [1962], Hecht et al [1969], Hou and Wang [1996], Hustinx et al [1961], Lanman et al [1960], Lehmann and Forssman [1960], Lorda‐Sanchez et al [1991], Maximilian et al [1980], Milcus and Maicanesco [1963], Pfeiffer [1964], Saura et al [1983], Schmidt et al [1978], Tuck et al [1983], Turpin et al [1964]…”

Section: To the Editormentioning

confidence: 99%

Double trisomy

Hassed

Mulvihill

et al. 2003

American J of Med Genetics Pt A

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“…Translocation occurs in 5 to 10 per cent of mongoloids, and involves two chromosomes, one in Patau's D (13)(14)(15) group, and one in the G (21)(22) group. Translocation occurs in 5 to 10 per cent of mongoloids, and involves two chromosomes, one in Patau's D (13)(14)(15) group, and one in the G (21)(22) group.…”

Section: Clinical Diagnoses Of 600 Children Studiedmentioning

confidence: 99%