Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y

被引：19

作者：

Arnedo, N

Templado, C

Sánchez-Blanque, Y

Rajmil, O

Nogués, C

机构：

[1] Univ Autonoma Barcelona, Fac Ciencias, Dept Biol Cellular Fisiol & Immunol, Unitat Biol Cellular, E-08193 Bellaterra, Barcelona, Spain

[2] Fundacio Puigvert, Serv Androl, E-08025 Barcelona, Spain

来源：

HUMAN REPRODUCTION | 2006年 / 21卷 / 02期

关键词：

FISH analysis; Klinefelter syndrome; parental origin; paternal age; sperm aneuploidy;

D O I：

10.1093/humrep/dei321

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

BACKGROUND: It is still unclear if a recurrence risk would exist in fathers of an aneuploid offspring of paternal origin. We have studied disomy frequencies in spermatozoa from fathers having Klinefelter syndrome (KS) offspring or miscarriages. The effect of paternal age on sperm disomy percentages is also analysed. METHODS: Parental origin of 17 KS patients was carried out by amplification of X chromosome polymorphisms. Spermatozoa from their fathers were studied by multicolour fluorescent in situ hybridisation (FISH) using probes for chromosomes 6, 13, 18, 21, 22, X and Y. RESULTS: In 53% of KS cases studied the additional X chromosome was of paternal origin. The paternally transmitted KS group of fathers showed significantly higher frequencies for XY disomy sperm as compared to fathers of the maternal-origin group. A correlation between paternal age and XY disomy frequencies was only found in the paternally derived cases. In contrast, similar disomy frequencies for all autosomes analysed were found in both groups of fathers. CONCLUSIONS: XY disomy frequencies increase with advancing paternal age only in fathers with paternally inherited KS offspring.

引用

页码：524 / 528

页数：5

共 26 条

[11]

LORDASANCHEZ I, 1992, HUM GENET, V89, P524

[12] Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome [J].

Lowe, X ;

Eskenazi, B ;

Nelson, DO ;

Kidd, S ;

Alme, A ;

Wyrobek, AJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1046-1054

[13] Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomes [J].

Martin, RH ;

Rademaker, AW .

CYTOGENETICS AND CELL GENETICS, 1999, 86 (01) :43-45

[14]

MARTIN RH, 1995, AM J HUM GENET, V57, P1395

[15] Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients [J].

Martínez-Pasarell, O ;

Nogués, C ;

Bosch, M ;

Egozcue, J ;

Templado, C .

HUMAN GENETICS, 1999, 104 (04) :345-349

[16] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].

MILLER, SA ;

DYKES, DD ;

POLESKY, HF .

NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215

[17] Three-probe fluorescence in situ hybridization to assess chromosome X, Y, and 8 aneuploidy in sperm of 14 men from two healthy groups: Evidence for a paternal age effect on sperm aneuploidy [J].

Robbins, WA ;

Baulch, JE ;

Moore, D ;

Weier, HU ;

Blakey, D ;

Wyrobek, AJ .

REPRODUCTION FERTILITY AND DEVELOPMENT, 1995, 7 (04) :799-809

[18]

Shi QH, 2001, AM J MED GENET, V99, P34, DOI 10.1002/1096-8628(20010215)99:1<34::AID-AJMG1106>3.0.CO

[19]

2-D

[20] Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients [J].

Soares, SR ;

Vidal, F ;

Bosch, M ;

Martínez-Pasarell, O ;

Nogués, C ;

Egozcue, J ;

Templado, C .

HUMAN GENETICS, 2001, 108 (06) :499-503

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