A case of XYY Down's syndrome confirmed by autoradiography.

Laxová, Renata; McKeown, J A; Saldaña, P.; Timothy, Johnson

doi:10.1136/jmg.8.2.215

Journal of Medical Genetics

1971

DOI: 10.1136/jmg.8.2.215

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A case of XYY Down's syndrome confirmed by autoradiography.

Renata Laxová¹,

J A McKeown²,

P. Saldaña³

et al.

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Cited by 7 publications

(1 citation statement)

References 31 publications

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“…The infant with Down's syndrome and xolxy mosaicism. Note typical facies and somatic features of mongolism and the ambiguous genitals.typical male infants associated with an extra Y-chromosome (48,XYY G + ) have been reported (1,10, 12, 15,17). No phenotypical effects of the additional Y chromosome have…”

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confidence: 91%

Down's Syndrome With X0/Xy Mosaicism

Yeung¹,

Yang²

1976

Acta Paediatrica

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A 5-month-old Chinese infant with combined Down's syndrome and X0/XY mosaicism is presented. The phenotypical features of mongolism are classical and unmodified. The somatic effects of X0/XY mosaicism is that of incomplete masculinization with short phallus, hypospadias, bifid scrotum, urogenital sinus, and bilateral extra-abdominal infantile testicles. These features together with the absence of internal female organs and signs of Turner's syndrome in this patient are different from the previous reported cases of mixed gonadal dysgenesis.

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confidence: 91%

Down's Syndrome With X0/Xy Mosaicism

Yeung¹,

Yang²

1976

Acta Paediatrica

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Another case of prenatally diagnosed 48,XYY,+21

et al. 1995

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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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A case of XYY Down's syndrome confirmed by autoradiography.

Cited by 7 publications

References 31 publications

Down's Syndrome With X0/Xy Mosaicism

Down's Syndrome With X0/Xy Mosaicism

Another case of prenatally diagnosed 48,XYY,+21

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

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