Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling
نویسندگان
چکیده
منابع مشابه
Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling.
Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remain...
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Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with a history of five consecutive blighted ova and an offspring with three cell lines of different genotypes. We assessed parental karyotypes and identified a het...
متن کاملReproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling.
Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resu...
متن کاملBalanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
متن کاملSperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers.
A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse reproductive history. Cytogenetic analysis...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2016
ISSN: 1676-5680
DOI: 10.4238/gmr.15038556