Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype....
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/681747 |
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| author | Attila Szvetko Nicole Martin Chris Joy Andrea Hayward Bob Watson Andrew Cary Stephen Withers |
| author_facet | Attila Szvetko Nicole Martin Chris Joy Andrea Hayward Bob Watson Andrew Cary Stephen Withers |
| author_sort | Attila Szvetko |
| collection | DOAJ |
| description | We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an unbalanced form of the translocation 46, X, der(X), t(X;18)(q22.3;q23). The brother of the proband was investigated and was found to possess the balanced form of the same translocation, resulting in disrupted spermatogenesis. Maternal investigation revealed the progenitor karyotype 46, X, t(X;18)(q22.3;q23). Maternal inheritance and various genomic events contributed to the resultant genotypes. Primary infertility was initially diagnosed in all progeny; however, the male individual recently fathered twins. We briefly review the mechanisms associated with X;18 translocations and describe a pattern of inheritance, where breakpoints and translocation of the Xq22.3;18q23 regions have resulted in variable fertility. |
| format | Article |
| id | doaj-art-a2c850faba51481bacabfde632c56798 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a2c850faba51481bacabfde632c567982025-02-03T01:07:46ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/681747681747Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility PhenotypesAttila Szvetko0Nicole Martin1Chris Joy2Andrea Hayward3Bob Watson4Andrew Cary5Stephen Withers6Genetics Department, Genesis Clinical Genetics, Suite 3 Allamanda Medical Centre, 25 Spendelove Street, Southport, Qld 4215, AustraliaCytogenetics Laboratory, Queensland Fertility Group, 1st Floor, 225 Wickham Terrace, Brisbane, Qld 4000, AustraliaGenetics Department, QML Pathology, 11 Riverview Place, Metroplex on Gateway, Murarrie, Qld 4172, AustraliaGenetics Department, Genesis Clinical Genetics, Suite 3 Allamanda Medical Centre, 25 Spendelove Street, Southport, Qld 4215, AustraliaBrisbane IVF Clinic, Queensland Fertility Group, 125 Flockton Street, Everton Park, Brisbane, Qld 4053, AustraliaGold Coast IVF Unit, Fertility Gold Coast, Pindara Private Hospital, 13 Carrara Street, Benowa, QLD 4217, AustraliaGenetics Department, Genesis Clinical Genetics, Suite 3 Allamanda Medical Centre, 25 Spendelove Street, Southport, Qld 4215, AustraliaWe describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an unbalanced form of the translocation 46, X, der(X), t(X;18)(q22.3;q23). The brother of the proband was investigated and was found to possess the balanced form of the same translocation, resulting in disrupted spermatogenesis. Maternal investigation revealed the progenitor karyotype 46, X, t(X;18)(q22.3;q23). Maternal inheritance and various genomic events contributed to the resultant genotypes. Primary infertility was initially diagnosed in all progeny; however, the male individual recently fathered twins. We briefly review the mechanisms associated with X;18 translocations and describe a pattern of inheritance, where breakpoints and translocation of the Xq22.3;18q23 regions have resulted in variable fertility.http://dx.doi.org/10.1155/2012/681747 |
| spellingShingle | Attila Szvetko Nicole Martin Chris Joy Andrea Hayward Bob Watson Andrew Cary Stephen Withers Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes Case Reports in Genetics |
| title | Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes |
| title_full | Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes |
| title_fullStr | Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes |
| title_full_unstemmed | Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes |
| title_short | Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes |
| title_sort | detection of chromosome x 18 breakpoints and translocation of the xq22 3 18q23 regions resulting in variable fertility phenotypes |
| url | http://dx.doi.org/10.1155/2012/681747 |
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