Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation.
نویسندگان
چکیده
We report on a 22 year old mother, a carrier of a 6;14 balanced reciprocal translocation, who aborted a triploid conceptus carrying a similar translocation. We showed the maternal origin of this triploidy, after non-disjunction at meiosis I. The phenotypic expression as a non-molar pregnancy, the contribution of the maternal translocation, and possible aetiological factors of triploidy are discussed.
منابع مشابه
Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.
Reciprocal translocations produce imbalances by three types of disjunction which are, in decreasing frequency, adjacent 1, 3:1, and adjacent 2. Adjacent 1 disjunction produces duplication deficiencies of inverse topography to those of adjacent 2. The imbalanced chromosome segments in one of these types are balanced in the other. The disjunction 3:1 produces pure trisomies and monosomies. The fo...
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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 کاملAdditional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciproca...
متن کاملReciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.
Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized.
متن کاملRECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 11 شماره
صفحات -
تاریخ انتشار 1990