Analysis of the Chromosomal Deletions [PDF]
International Journal of Human Genetics, 2011 Deletion involves loss of part of a chromosome resulting in monosomy for that segment of chromosome.
Leelavathy Nanjappa +3 more
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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array
Molecular Cytogenetics, 2020 Background Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic ...
Pingping Zhang +5 more
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Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]
, 2001 Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ +11 more
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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Molecular Cytogenetics, 2019 Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT)
Ganye Zhao +6 more
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Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
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InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
, 2016 Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
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Reproductive Biology and Endocrinology, 2023 Background The incidence of Y chromosome microdeletions varies among men with infertility across regions and ethnicities worldwide. However, comprehensive epidemiological studies on Y chromosome microdeletions in Chinese men with infertility are lacking.
Dongjia Chen +8 more
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Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery [PDF]
, 2014 BACKGROUND: Wider clinical applications of 9p status in clear cell renal cell carcinoma (ccRCC) are limited owing to the lack of validation and consensus for interphase fluorescent in situ hybridisation (I-FISH) scoring technique.
Bondad, J. +7 more
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Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11 [PDF]
, 2005 Background: Loss of chromosome 11q defines a subset of high-stage aggressive neuroblastomas. Deletions are typically large and mapping efforts have thus far not lead to a well defined consensus region, which hampers the identification of positional ...
De Preter, K +13 more
core +3 more sources
Hypothyroidism and Chromosome 21 Deletion
Pediatric Neurology Briefs, 1996 A 12-year-old mentally retarded girl with a large deletion of the long arm of chromosome 21 and congenital hypothyroidism is reported from the Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala, Sweden.
J Gordon Millichap
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