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3,713 Possible Causes for chromosome deletion

  • Red Cell Aplasia

    Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to 19 Mb.[] Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region.[] Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion.[]

  • Analbuminemia

    Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia.[]

  • Primary Hyperoxaluria

    To our knowledge, this is the first report of PH1 and BDMR, with a novel AGXT mutation and a de novo telomeric deletion of chromosome 2q.[] Microsatellite and array-CGH analyses indicated that the proband had a paternal de novo telomeric deletion of chromosome 2q, which included HDAC4.[]

  • Poland Syndrome

    They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that[] We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting[] Figure 3 Identification of a de novo chromosome 11q12.3 deletion in MZ twins with Poland Syndrome. A) Array-CGH profile of chromosome 11 deleted segment.[]

  • Infertility

    […] to intra-chromosomal deletions.[] Molecular deletion analysis demonstrated that no microdeletion was detected in the azoospermia factor region of the Y chromosome in the examined, infertile men.[] Such deletions lead to copy number variation in genes of the Y chromosome resulting in male infertility.[]

  • Seckel Syndrome

    Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients.[] In these patients no chromosome 2q deletion has been reported so far.[] Chromosomal aberrations (chromatid and chromosomal gaps and breaks, deletions, fragments, and exchanges) were scored in 100 metaphases per culture.[]

  • Kyphosis

    We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5Mb of DNA.[] Previous studies have identified a 6Mb region of chromosome 21 associated with severe kyphosis.[] Interestingly, this region overlaps the 250kb segment deleted in patient 2.[]

  • Conductive Hearing Loss

    Only eight cases involving deletions of chromosome 17 in the region q22-q24 have been reported previously.[] Analysis with whole-genome SNP genotyping assay detected a 5.9 Mb deletion in chromosome band 17q22-q23.2 with breakpoints between 48,200,000-48,300,000 bp and 54,200,000-[]

  • Urinary Tract Obstruction

    The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%).[]

  • Medium Chain Acyl CoA Dehydrogenase Deficiency

    An interstitial deletion of chromosome 1 was detected by repeat G-banding: 46,XX,del(1)(p22.2p31.1). Parental karyotypes were normal.[] This is the first report of a patient with fatty acid oxidation defect caused by a mutation in combination with an interstitial chromosomal deletion.[] The deletion was characterized by array CGH analysis using a 1 Mb BAC/PAC array platform.[]

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