Balanced translocation
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
... reciprocal translocation carriers was usually observed [3, ...a translocation) in ...and balanced translocation zygotes for the offspring of reciprocal translocation carriers was much ...
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A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype
... The woman had a history of previous fetal losses attributed to lissencephaly and intra uterine growth retardation (IUGR) and a daughter with dysmorphic features and mental retardation, previously attributed to a small ...
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BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
... between balanced translocation and normal blastocysts based upon SNP ...between balanced and normal embryos prior to implantation from balanced translocation carriers accur- ...
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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
... Case presentation: We report on a karyotypically balanced translocation t(2;22)(p13;q12.2) associated with variable learning disabilities, and craniofacial and hand dysmorphisms, detected in six individuals ...
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MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes
... a balanced translo- cation and type 2 diabetes, the candidate gene inositol hex- aphosphate kinase 1 (IHPK1) was identified by mapping the translocation breakpoints ...a balanced transloca- tion that ...
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A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
... Case presentation: The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to ...
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Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
... Here, we report a couple, who turned to assisted reproduction after experiencing two consecutive preg- nancy losses. The couple chose to undergo preimplanta- tion genetic testing for aneuploidy (PGT-A) to increase the ...
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A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
... G-banding level (Fig. 1a). RB1 signals were detected on the normal chromosome 13 and on der(X), indicating no breakpoint in the RB1 gene (Fig. 1b). Further FISH analysis with BAC clones mapped the breakpoint to be- tween ...
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Balanced Chromosomal Translocations of Parents in Relation to Spontaneous Abortions
... of balanced translocation in 153 couples who were introduced to the medical genetic laboratory by ...of balanced chromosomal translocation was ...Robertsonian translocation and the ...
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Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2—pter with the Deletion of the Terminal Portion of the Chromosome 6
... Cytogenetic studies in the family members of the husband revealed the same translocation in his father and his sister. In order to refine the results of the cytogenetic test of the father, we performed an in-depth ...
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Chromosomal Abnormalities in Regions 8q22 and 13q32 Associated with Different Disorders in an Iranian Family
... apparently balanced translocation between chromosomes 8 and 13 and his father was ...of translocation without any clinical abnormality and fathers are normal, also both of infants showed some similar ...
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A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
... showed balanced translocation of chromosomes 18 and ...balance translocation in this region was first ...In balanced X;autosome translocations, the normal X chromosome is usually, though not ...
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A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3
... MRKH translocation patient and are the first to characterize the breakpoints mapped by molecular ...novo balanced translocation ...t(3;16)(p22.3;p13.3) translocation patient using molecular ...
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Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
... Case presentation: Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger ...
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The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier
... un- balanced translocations and showed the trisomy 3p14→cen→3qter and monosomy ...if balanced trans- location could be detected by NGS analysis, the 2 em- bryos diagnosed as 46,XX were known to have the ...
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Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
... Trisomy of 13q is more frequently a result of parental balanced translocation or pericentric inversion rather than of de novo duplication [25]. Most of the features present in patients with partial trisomy ...
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Consistency of Cheeger and Ratio Graph Cuts
... discrete balanced cuts converge to optimal continuum balanced cuts is reduced to proving that the discrete balanced-cut objective functionals converge (in the sense of the notion of variational ...
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A New Dual Band Balanced-to-Balanced Power Divider
... proposed balanced-to-balanced power divider can be ...band balanced-to-balanced power divider could be designed with 1 : 1 power ...This balanced-to-balanced power divider is ...
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Applying structured decision making to management of the reintroduced hihi population in Bushy Park :|ba thesis presented for the degree of Master of Science in Conservation Biology at Massey University, Palmerston North, New Zealand
... probability of hihi in Bushy Park following translocation. ...................................................... 32 Table 2.3. A set of models fitted to hihi re-sighting data to determine whether re-sighting ...
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How translocation affects the activity, home range and pair-bonds of great spotted kiwi (Apteryx haastii)
... To determine whether a bird had enough location data to reveal a home range or territory pre and/or post translocation, incremental analysis at a 95% single core using recalculated ac (rAc) was performed using ...
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