13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size...
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medical syndromes. 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome 13q deletion syndrome 17q21.31 microdeletion syndrome 22q11...
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Lange syndrome Orofaciodigital syndrome 1 13q deletion syndrome XXYY syndrome Silver–Russell syndrome Andersen-Tawil syndrome Noonan syndrome Ehlers–Danlos...
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Patau syndrome, mosaic trisomy 9, 13q deletion syndrome, Wolf–Hirschhorn syndrome) or monogenetic Mendelian disorders (e.g. CHARGE syndrome, Fraser...
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syndrome, short rib–polydactyly syndrome type 1, Townes–Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence and the OEIS complex...
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(2009). "Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus". American...
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Chromosome 13q deletion Chromosome 13q trisomy Chromosome 13q-mosaicism Chromosome 14 ring Chromosome 14 trisomy Chromosome 14, deletion 14q, partial...
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disorders are some of those related to genes on chromosome 13: 13q deletion syndrome Bipolar disorder Bladder cancer Breast cancer Heterochromia Hirschsprung's...
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as chronic lymphocytic leukemia. Cri du Chat (CdC) is a syndrome caused by a partial deletion of the short arm of chromosome 5. Several studies have shown...
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smoking, previous chemotherapy or radiation therapy, myelodysplastic syndrome, and exposure to the chemical benzene. The underlying mechanism involves...
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tract). Radiation exposure Somatic mutation, such as deletion of chromosome 9q, 9p, 11p, 17p, 13q, 14q and overexpression of RAS (oncogene) and epidermal...
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carcinoma, hereditary leiomyomatosis, Birt–Hogg–Dube syndrome, hyperparathyroidism-jaw tumor syndrome, familial papillary thyroid carcinoma, von Hippel–Lindau...
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of 8–10 years; deletion of chromosome 13q is associated with a median OS of 17 years; and trisomy of chromosome 12, as well as deletion of chromosome 11q...
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genetic findings that may be associated with poor outcomes include: 13q deletion, 7q gain, ID3 and CCND3 double-hit mutations, and 18q21 CN-LOH mutations...
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cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere". American Journal of Human Genetics. 66...
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Abeliovich D (November 2001). "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation...
30 KB (3,572 words) - 07:50, 2 November 2024