Reduced recombination and paternal age effect in Klinefelter syndrome.
Hum Genet
; 89(5): 524-30, 1992 Jul.
Article
em En
| MEDLINE
| ID: mdl-1353053
ABSTRACT
The parental origin of the additional sex chromosome was studied in 47 cases with an XXY sex chromosome constitution. In 23 cases (49%), the error occurred during the first paternal meiotic division. Maternal origin of the additional chromosome was found in the remaining 24 cases (51%). Centromeric homo- versus heterozygosity could be determined in 18 out of the 24 maternally derived cases. According to the centromeric status and recombination rate, the nondisjunction was attributable in 9 cases (50%) to an error at the first maternal meiotic division, in 7 cases (39%) to an error at the second maternal meiotic division and in 2 cases (11%) to a nullo-chiasmata nondisjunction at meiosis II or to postzygotic mitotic error. No recombination, and in particular none in the pericentromeric region, was found in any of the 9 cases due to nondisjunction at the first maternal meiotic division. Significantly increased paternal age was found in the paternally derived cases. Maternal age was significantly higher in the maternally derived cases due to a meiotic I error compared with those due to a meiotic II error. There were no significant clinical differences between patients with respect to the origin of the additional X chromosome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Idade Paterna
/
Síndrome de Klinefelter
Limite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
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