ArticlePrenatal diagnosis2005
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.
Article in Prenatal diagnosis, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 86 citations in OpenAlex.
- Article
- Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.Case reports in genetics · 2025Article
- Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study.International journal of cancer · 2019Article
- The effect of translocation-induced nuclear reorganization on gene expression.Genome research · 2010Article
- Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.American journal of medical genetics. Part A · 2010Article
- Cytogenetic investigation of couples with recurrent spontaneous miscarriages.Pakistan journal of medical sciencesArticle
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5 authors at 3 institutions in 1 country.
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Abstract
objectiveTo report the first tertiary monosomy in a pregnancy loss to a female t(11;22) carrier.
methodsThe 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.
resultsDuring 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.
conclusionThis 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.
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