Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions
We report a young woman who presented with a reproductive history of two recurrent spontaneous abortions. Genetic etiology of recurrent fetal loss is determined by the demonstration of parents' chromosomal constitution. Analysis of the family members from 2 generations revealed 3 phenotypically...
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| Format: | Article |
| Language: | English |
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Medical Network
2010-12-01
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| Series: | Gynecology Obstetrics & Reproductive Medicine |
| Subjects: | |
| Online Access: | http://gorm.com.tr/index.php/GORM/article/view/370 |
| _version_ | 1797912551554547712 |
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| author | Gülseren Bağcı Emre Tepeli Füsun Düzcan Ozan Çetin Erkan Alataş |
| author_facet | Gülseren Bağcı Emre Tepeli Füsun Düzcan Ozan Çetin Erkan Alataş |
| author_sort | Gülseren Bağcı |
| collection | DOAJ |
| description | We report a young woman who presented with a reproductive history of two recurrent spontaneous abortions. Genetic etiology of recurrent fetal loss is determined by the demonstration of parents' chromosomal constitution. Analysis of the family members from 2 generations revealed 3 phenotypically normal individuals carying the same reciprocal translocation. The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. The proband's karyotype was identified as 46, XX, t (2;18) (p15; p11.2) by giemsa banding techniques. The karyotypes of the proband's father and brother are 46, XY, t (2;18) (p15;p11.2). Her sister had two spontaneus abortions, her chromosomal analysis could not be determined because she was living in another city. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. Reciprocal translocations are of great clinical importance. The carriers of balanced reciprocal translocations have increased risk of creating gametes with unbalanced chromosome translocations
leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing is often offered o families carrying a translacation. |
| first_indexed | 2024-04-10T11:57:43Z |
| format | Article |
| id | doaj.art-0e2286fe1bba4b1ba9e4e2dfe96b6871 |
| institution | Directory Open Access Journal |
| issn | 1300-4751 |
| language | English |
| last_indexed | 2024-04-10T11:57:43Z |
| publishDate | 2010-12-01 |
| publisher | Medical Network |
| record_format | Article |
| series | Gynecology Obstetrics & Reproductive Medicine |
| spelling | doaj.art-0e2286fe1bba4b1ba9e4e2dfe96b68712023-02-15T16:16:44ZengMedical NetworkGynecology Obstetrics & Reproductive Medicine1300-47512010-12-01163302Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous AbortionsGülseren Bağcı0Emre Tepeli1Füsun Düzcan2Ozan Çetin3Erkan Alataş4Pamukkale University School of Medicine Department of Medical Biology, DenizliPamukkale University School of Medicine Department of Medical Genetics, DenizliPamukkale University School of Medicine Department of Medical Genetics, DenizliPamukkale University School of Medicine Department of Medical Genetics, DenizliPamukkale University School of Medicine Department of Obstetrics and Gynecology, DenizliWe report a young woman who presented with a reproductive history of two recurrent spontaneous abortions. Genetic etiology of recurrent fetal loss is determined by the demonstration of parents' chromosomal constitution. Analysis of the family members from 2 generations revealed 3 phenotypically normal individuals carying the same reciprocal translocation. The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. The proband's karyotype was identified as 46, XX, t (2;18) (p15; p11.2) by giemsa banding techniques. The karyotypes of the proband's father and brother are 46, XY, t (2;18) (p15;p11.2). Her sister had two spontaneus abortions, her chromosomal analysis could not be determined because she was living in another city. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. Reciprocal translocations are of great clinical importance. The carriers of balanced reciprocal translocations have increased risk of creating gametes with unbalanced chromosome translocations leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing is often offered o families carrying a translacation.http://gorm.com.tr/index.php/GORM/article/view/370Recurrent spontaneous abortions, Familial translocations, Chromosomal abnormalities |
| spellingShingle | Gülseren Bağcı Emre Tepeli Füsun Düzcan Ozan Çetin Erkan Alataş Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions Gynecology Obstetrics & Reproductive Medicine Recurrent spontaneous abortions, Familial translocations, Chromosomal abnormalities |
| title | Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions |
| title_full | Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions |
| title_fullStr | Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions |
| title_full_unstemmed | Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions |
| title_short | Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions |
| title_sort | familial translocation 2 18 ascertained through recurrent spontaneous abortions |
| topic | Recurrent spontaneous abortions, Familial translocations, Chromosomal abnormalities |
| url | http://gorm.com.tr/index.php/GORM/article/view/370 |
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