نتایج جستجو برای: balanced chromosomal rearrangement
تعداد نتایج: 116705 فیلتر نتایج به سال:
H ereditary ataxia is a clinically and genetically heterogenous group of disorders. Most are progressive and associated with other neurological abnormalities. Early onset, non-progressive cerebellar ataxia (OMIM #117360) has been described as a dominantly inherited disorder associated with isolated vermal atrophy or generalised atrophy of the cerebellum. 5 This is a rare entity compared with au...
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB t...
Complex chromosomal rearrangements (CCRs) are rare structural rearrangements involving three or more chromosomes. Balanced CCRs are often seen in phenotypically normal females who may later present with fertility problems. We report a 25-year old female with an adverse obstetric history and a de novo CCR involving chromosomes 7, 13 and 15 detected after GTG-banding. The de novo origin was confi...
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...
A patient with idiopathic hypogonadotropic hypogonadism (IHH) had an apparently balanced reciprocal translocation involving chromosomes 13 and 16 [t(13;16)(q14.11;q24)]. The patient's father has the same chromosomal translocation with no apparent physical abnormalities. The role of the chromosomal translocation in this patient is discussed.
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