Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission
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DOI: 10.1155/2020/4976204
Abstract: Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case… read more here.
Keywords: pseudoautosomal region; natural two; translocation; translocation pseudoautosomal ... See more keywords
De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome
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DOI: 10.1159/000497173
Abstract: This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the… read more here.
Keywords: novo unbalanced; deletion; translocation 22q11; unbalanced translocation ... See more keywords
A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
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DOI: 10.1186/s13039-021-00562-1
Abstract: Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced… read more here.
Keywords: new case; case 17p13; genomic imbalance; translocation ... See more keywords