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Sperm meiotic segregation and aneuploidy in a 46,X,inv(Y),t(10;15) carrier: case report
Miluse Vozdova, Eva Oracova, Renata Gaillyova, Jiri Rubes
Jazyk angličtina Země Spojené státy americké
Typ dokumentu kazuistiky
Grantová podpora
NS9842
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
Zdroj
NLK
ScienceDirect (archiv)
od 1993-01-01 do 2009-12-31
- MeSH
- aberace pohlavních chromozomů MeSH
- aneuploidie MeSH
- chromozomální inverze MeSH
- dospělí MeSH
- heterozygot MeSH
- karyotypizace MeSH
- lidé MeSH
- lidské chromozomy, pár 10 MeSH
- lidské chromozomy, pár 15 MeSH
- lidský chromozom Y genetika MeSH
- meióza genetika MeSH
- mladý dospělý MeSH
- segregace chromozomů fyziologie genetika MeSH
- spermie abnormality metabolismus MeSH
- studie případů a kontrol MeSH
- translokace genetická MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVE: To analyze the meiotic segregation and an interchromosomal effect in sperm of an inv(Y) (p11.1;q11.2),t(10;15) (q25.2;q12) carrier. DESIGN: Case report. SETTING: Research institute. PATIENT(S): Man with a karyotype 46,X,inv(Y),t(10;15), normal sperm parameters, and secondary infertility. INTERVENTION(S): Multicolor fluorescence in situ hybridization using probes for chromosomes 10, 15, 8, 18, 21, X, and Y. MAIN OUTCOME MEASURE(S): Frequencies of meiotic segregation products and aneuploidy of chromosomes 8, 18, 21, X, and Y. RESULT(S): The most frequent type of meiotic segregation was the alternate (40.82%), followed by the adjacent 1 (28.09%), adjacent 2 (16.33%), and 3:1 (9.91%) segregations. Neither deviation from the expected 1:1 ratio of the X- and Y-bearing spermatozoa nor any evidence of an interchromosomal effect on aneuploidy of chromosomes X, Y, 8, 18, and 21 and diploidy was observed in the carrier compared with control donors. The disomies of chromosomes 8 and 21 were equally frequent in X- and Y-bearing spermatozoa of the carrier. CONCLUSION(S): The fluorescence in situ hybridization analysis of meiotic segregation and aneuploidy helps to personalize the reproductive risk in carriers of balanced structural chromosomal aberrations. Complete information concerning the quality of spermatogenesis is necessary in all donors (both translocation carriers and controls) implicated in interchromosomal effect studies.
Biological Institute Faculty of Medicine Brno Czech Republic
Department of Genetics and Reproduction Veterinary Research Institute Brno Czech Republic
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- $a OBJECTIVE: To analyze the meiotic segregation and an interchromosomal effect in sperm of an inv(Y) (p11.1;q11.2),t(10;15) (q25.2;q12) carrier. DESIGN: Case report. SETTING: Research institute. PATIENT(S): Man with a karyotype 46,X,inv(Y),t(10;15), normal sperm parameters, and secondary infertility. INTERVENTION(S): Multicolor fluorescence in situ hybridization using probes for chromosomes 10, 15, 8, 18, 21, X, and Y. MAIN OUTCOME MEASURE(S): Frequencies of meiotic segregation products and aneuploidy of chromosomes 8, 18, 21, X, and Y. RESULT(S): The most frequent type of meiotic segregation was the alternate (40.82%), followed by the adjacent 1 (28.09%), adjacent 2 (16.33%), and 3:1 (9.91%) segregations. Neither deviation from the expected 1:1 ratio of the X- and Y-bearing spermatozoa nor any evidence of an interchromosomal effect on aneuploidy of chromosomes X, Y, 8, 18, and 21 and diploidy was observed in the carrier compared with control donors. The disomies of chromosomes 8 and 21 were equally frequent in X- and Y-bearing spermatozoa of the carrier. CONCLUSION(S): The fluorescence in situ hybridization analysis of meiotic segregation and aneuploidy helps to personalize the reproductive risk in carriers of balanced structural chromosomal aberrations. Complete information concerning the quality of spermatogenesis is necessary in all donors (both translocation carriers and controls) implicated in interchromosomal effect studies.
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