Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46, XY t(12;20) (q24.3;q11)

Martin, Renée H.; McGillivray, Barbara; Barclay, Leona; Hildebrand, Kathy; Ko, Evelyn

doi:10.1093/oxfordjournals.humrep.a137153

Cited by 22 publications

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“…Analysis of sperm nuclei was employed besides post‐fertilization analysis in blastomers. Most studies on reciprocal translocations showed that normal/alternate and adjacent I segregations are common segregation patterns and their frequencies are similar [Brandriff et al, 1986; Martin et al, 1990b; Templado et al, 1990; Estop et al, 1998; Escudero et al, 2003; Lim et al, 2003]. Our results for the all cases with t(7;10), t(15;17), t(6;13), and t(1;13) were also consistent with the data reported and frequencies of normal/alternate and adjacent I segregations were common (78.6%, 76.8%, 70.5%, and 71.8%) which show that the most important phenomenon in meiosis for chromosome segregation is centromeres.…”

Section: Discussionmentioning

confidence: 99%

Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres

Yakut

Ercelen

Acar

et al. 2006

American J of Med Genetics Pt A

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Balanced chromosomal rearrangements could lead to unbalanced segregation gametes during meiosis. In this study, sperm flourescence in situ hybridization (FISH) analysis of meiotic segregation products of four reciprocal translocations; 46,XY,t(7;10)(q21;q22), 46,XY,t(15;17)(q11;p12), 46,XY,t(6;13)(p21.1;q32), and 46,XY,t(1;13)(q24;q10) are presented. In three out of these four cases with t(15;17), t(6;13), and t(1;13) additional blastomere FISH analyses are also provided. Multi-color FISH analysis was applied using diverse probe combinations specific for translocated chromosome segments. The average frequency of sperm nuclei bearing unbalanced products for t(7;10), t(15;17), t(6;13), and t(1;13) were 48.7%, 59.5%, 60.5%, and 62.9%, respectively. Frequencies of blastomeres comprising unbalanced products in cases with t(15;17), t(6;13), and t(1;13) were 80% (12 of 15), 60% (3 of 5), and 50% (2 of 4), respectively. Chi-square test analysis showed significant differences in the meiotic segregation patterns due to the distribution and numbers of the chiasmatas that could depend on the size of the translocated segments (P < 0.001). In conclusion, FISH analysis of sperm and blastomere for reciprocal translocation carriers effectively estimates the approximate risk of unbalanced products and this result might ensure valuable genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres

Yakut

Ercelen

Acar

et al. 2006

American J of Med Genetics Pt A

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“…Most studies used BWW medium [Martin, 19831 for capacitation of sperm [Balkan et al, 1983;Balkan and Martin, 1983a, b;Benet and Martin, 1988;Brandriff et al, 1985a;Martin, 1984Martin, ,1986Martin, ,1988aMartin et al, 1986aMartin et al, , 1987Rudak et al, 19781. Test-yolk buffer [Brandriff et al, 1985bl was also used for storage and capacitation of sperm [Brandriff et al, 1985a[Brandriff et al, , 1986Martin, 1988bMartin, , 1990Martin et al, 1990a, b;Templado et al, 19881. Some studies did not clearly identify which type of sperm pretreatment was used [Jenderny and Rohrborn, 1987;Pellestor et al, 1987Pellestor et al, , 1989Sele et al, 19851.…”

Section: Methodsmentioning

confidence: 99%

“…The men were 18 to 55 years old. The mean frequency of numerical abnormalities in the Martin et al, 1990aMartin et al, 1990bMartin, 1984Martin, 1988Balkan and Martin, (unpubl. data) (unpubl.…”

Section: Human Spermmentioning

confidence: 99%

Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes

1991

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The frequency and distribution of aneuploidy was compared in 11,615 karyotyped human sperm and 772 karyotyped human oocytes to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes for human sperm and oocytes. In general, hypohaploid chromosome complements were more frequent than hyperhaploid complements, in sperm and oocytes. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. A conservative estimate of aneuploidy (2 X hyperhaploidy) was approximately 3-4% in the human sperm and 18-19% in human oocytes. All chromosome groups were represented among hyperhaploid human sperm and oocytes. For human sperm, the observed frequency of hyperhaploidy equaled the expected frequency based on the assumption that the frequency of nondisjunction is equal for all chromosome groups, with two exceptions: group G and the sex chromosomes. Among individual chromosomes in human sperm, chromosomes 1 and 21 and the sex chromosomes had a significant excess of hyperhaploidy. For human oocytes, there were fewer hyperhaploid oocytes than expected for chromosome groups C and F and more than expected for chromosome groups D and G. Among individual chromosomes there was a significant excess for chromosome 21. These results indicate that all chromosomes are susceptible to nondisjunction but that chromosome 21 is particularly prone to aneuploidy in both human sperm and oocytes. They also demonstrate that sex chromosome aneuploidy is common in human sperm but not in human oocytes.

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“…However, the incidence of segregation patterns of the balanced reciprocal translocation in sperm nuclei with the hamster oocyte-sperm fertilization technique is highly variable from one translocation to another and also from carrier to carrier (Pellestor Ç ora et al · Sperm-FISH Analysis in Carriers of Translocation 15;17 Blanco et al, 1998). Additionally, some investigators have shown evidence for an increase in the frequency of certain segregation products for some translocations (Pellestor et al, 1989;Martin et al, 1990;Estop et al, 1992). Furthermore, the 4:0 segregation in these studies was reported to be a more rare event.…”

Section: Discussionmentioning

confidence: 99%

Molecular Cytogenetic Detection of Meiotic Segregation Patterns in Sperm Nuclei of Carriers of 46,XY,t(15;17)(q21; q25)

ĈORA,

ACAR,

KAYNAK

2002

Journal of Andrology

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Structural chromosomal abnormalities in gonadal tissue represent an important category of parentally transmittable unbalanced chromosomal abnormalities to the offspring. A child with multiple anomalies was sent for cytogenetic analysis, and his karyotype was 46, XY, der(17)t(15; 17)(q21; q25). This abnormality was transferred from his grandfather to his father and to the proband. In this family, 5 persons (1 female and 4 male) are the carriers of this abnormality. In this study, fluorescence in situ hybridization (FISH) on sperm nuclei of 4 male carriers was studied to determine the distribution of segregation patterns of the balanced translocation 15q; 17q. The segregation results showed that the segregation products in the third carrier (the grandfather) were different, but they were not statistically significant. The segregation patterns in the other carriers were similar. Overall, 50.3% of the sperm nuclei (mean value for 4 carriers) analyzed were the result of alternate segregation; 36.9%, of adjacent I segregation; 9.0%, of adjacent II segregation; and 2.4%, of 3:1 segregation; the remaining 1.3% could be diploid sperm nuclei or of 4:0 segregation. Multicolor FISH analysis appears to be a rapid and reliable method for the direct analysis of segregation patterns in sperm nuclei of carriers of balanced reciprocal translocation, and it also provides interesting information for determining the possible risks for the offspring.

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Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46, XY t(12;20) (q24.3;q11)

Cited by 22 publications

References 0 publications

Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres

Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres

Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes

Molecular Cytogenetic Detection of Meiotic Segregation Patterns in Sperm Nuclei of Carriers of 46,XY,t(15;17)(q21; q25)

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