1,720,972 research outputs found
The phenotypic effect of the abnormal cell line in six patients showing mosaicism for a structural chromosome abnormality
No full textThe use of pyrosequencing to identify copy number variation of 16p11.2 in euchromatic variant carriers and the normal population
No full textA complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
No full textWe report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of the central segment, which arose de novo from a paternal interchomosomal event. The triplication contains 68 known genes within the 7.28 Mb of DNA between base pairs 107,140,721 and 114,416,131. All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2
Novel deletion variants of 9q21.11-q21.12 and classical euchromatic variants of 9q12/qh involve large scale copy number variation of segmentally duplicated pericentromeric euchromatin
No full textInverted duplication of 41.6 Mb of 1q characterised by array CGH and review of distal 1q partial trisomy
No full text16p11.2-p21.2 duplication syndrome differentiated from euchromatic variation of 16p11.2 in three new families
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Transmitted duplications of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties
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