Balanced reciprocal translocation t(1;16)(q12;q11) in two generations of a family
نویسندگان
چکیده
منابع مشابه
Balanced Reciprocal Translocation in A Case of Recurrent Miscarriage
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 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 کاملA Case Report of a Novel Balanced Reciprocal Translocation t(2;14)(q11;q24) in a Young Woman with Two Pregnancy Losses
Reciprocal chromosome translocations, especially balanced rearrangements are known to be one of the main causes of recurrent miscarriage. In this case report, we performed the clinical and cytogenetic analysis on a young couple with two pregnancy losses. Though the couple had a normal clinical study, the cytogenetic analysis revealed a balanced reciprocal translocation of t(2;14)(q11;q24) where...
متن کاملAn unusual balanced reciprocal translocation in several members of a family.
Chromosome abnormalities in structure as well as number have often been found to be associated with congenital anomalies in humans. Numerous genetic mechanisms have been postulated to explain the cytogenetic alterations. Wallace and Anderson (1964) reported a patient with numerous congenital anomalies whose chromosomal analysis revealed 45 chromosomes with a translocation deletion involving mem...
متن کاملbalanced reciprocal translocation t(x;1) in a girl with tall stature and primary amenorrhea
abstract chromosomal 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...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1981
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00278865