A liveborn infant with complete triploidy (69,XXX).
نویسندگان
چکیده
منابع مشابه
Long survival in a 69,XXX triploid infant in Greece.
The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with no evidence of mosaicism. This is the longest survival reported for t...
متن کامل46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.
We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (...
متن کاملPrenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin
Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...
متن کاملSecond polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy.
A case of 46,XX/69,XXX mixoploidy is described. The patient had a normal 46,XX diploid karyotype in lymphocytes but a triploid 69,XXX cell line in most of her fibroblasts. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied short tandem repeat polymorphisms (STRPs) in lymphocyte DNA of the patient's parents and in both lymphocyte and fibroblast DNA of the p...
متن کاملTriploidy with cyclopia and identical HLA alleles in the parents.
A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the paren...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 6 4 شماره
صفحات -
تاریخ انتشار 1969