A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer
Autor: | Beverly S. Emanuel, Wendy K. Chung, Dorothy Warburton, Vaidehi Jobanputra, April M. Hacker |
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Rok vydání: | 2005 |
Předmět: |
Adult
Abortion Habitual Monosomy Chromosomes Human Pair 22 Aneuploidy Breast Neoplasms Chromosomal translocation Biology Article Translocation Genetic Andrology Breast cancer Pregnancy medicine Humans In Situ Hybridization Fluorescence Genetics (clinical) Genetics Fetus Chromosomes Human Pair 11 Obstetrics and Gynecology medicine.disease Chromosome Banding Meiosis Products of conception Karyotyping Gestation Female |
Zdroj: | Prenatal Diagnosis. 25:683-686 |
ISSN: | 1097-0223 0197-3851 |
Popis: | Objective To report the first tertiary monosomy in a pregnancy loss to a female t(11;22) carrier. Methods The patient was a 34-year-old G10P1 female known to have a balanced translocation t(11;22)(q23;q11.2). She had one female livebirth (a translocation carrier) and eight miscarriages. Five female relatives known to be translocation carriers had a history of breast cancer, three of them premenopausally. The patient herself had a malignant melanoma. Results During the 10th pregnancy, ultrasound showed a viable embryo at 6 weeks of gestation, but loss of embryonic heartbeat by 7.5 weeks. Culture of the products of conception at 8 weeks of gestation showed the karyotype: 46,XY,+2,der(11)t(11;22)(q23;q11.2)mat,-22[4]/45,XY,der(11)t(11;22)(q23;q11.2)mat,-22[4], resulting from fertilization of the maternal 3:1 segregation product containing only the der(11) by a normal gamete. Subsequently, she became pregnant with a normal 46,XX fetus. FISH analysis indicated that the breakpoints on 11q and 22q in the patient were in the previously described region common to typical recurrent t(11;22). In addition, a nested-PCR-based approach showed that they were located within the same palindromic AT-rich sequence previously described. Conclusion This case demonstrates that the tertiary monosomy resulting from the 3:1 segregation is compatible with embryonic survival into the first trimester. It is also another example of apparent association of the constitutional translocation t(11;22) and breast cancer. Copyright © 2005 John Wiley & Sons, Ltd. |
Databáze: | OpenAIRE |
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