A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report

The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...

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...

a rare de novo balanced x; 1 translocation in an indian female with primary amenorrhea

background: translocations involving x chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. x chromosome translocations are frequently associated with primary or secondary amenorrhea. in this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes x and 1. case presentation: a 2...

A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report

BACKGROUND Recurrent miscarriage is a major concern in the couples with reproductive problems. The chromosomal abnormalities, mainly balanced rearrangements are reported in variable phenotypes and the prevalence of them is 2-8% in such couples. CASE PRESENTATION In this study, the clinical, cytogenetic and molecular cytogenetic evaluations were performed on a couple with RM. The cytogenetic a...