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Results 1 - 10 of 52 for Y chromosome deletions
  1. SHOX gene 
    ... and males (who have one X and one Y chromosome) have two functional copies of the SHOX gene in each cell. Langer mesomelic dysplasia results from genetic changes involving both copies of the SHOX gene in each cell. Deletions of this gene are the most common change ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  2. PHF21A gene 
    ... JR, Shi X, Gozani O, Cheng X, Shi Y. Recognition of unmethylated histone H3 ... on chromosome 11p11.2 associated with developmental delay and hypotonia. ...
    https://medlineplus.gov/genetics/gene/phf21a - Genetics
  3. CDKN1C gene 
    ... Wiedemann and severe long-QT syndrome due to deletion of the imprinting center ... Hamajima N, Johmura Y, Suzuki S, Nakanishi M, Saitoh S. Increased protein ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  4. BTK gene 
    ... Sullivan KE, Futatani T, Ochs HD. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  5. SOX11 gene 
    ... About This Health Condition SRY (sex determining region Y)-box 11 SRY-box 11 SRY-related HMG- ... 669-672. doi: 10.1038/s41586-020-2195-y. Epub 2020 Apr 22. Citation on PubMed Hempel ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  6. TBX1 gene 
    ... a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to ... Free article on PubMed Central Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  7. CREBBP gene 
    ... that these cases are a separate condition called chromosome 16p13.3 deletion syndrome. However, a few studies indicate that large ... Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  8. RERE gene 
    ... in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013;8(2):e57460. doi: 10. ...
    https://medlineplus.gov/genetics/gene/rere - Genetics
  9. SMARCB1 gene 
    ... Epub 2014 Dec 10. Citation on PubMed Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  10. KIF1B gene 
    ... AK, Ando K, Mukai A, Takahashi M, Suenaga Y, Ohira M, Koda T, Hirota T, Ozaki T, ... 8:1-2:217. Citation on PubMed Qin Y, Buddavarapu K, Dahia PL. Pheochromocytomas: from genetic diversity ...
    https://medlineplus.gov/genetics/gene/kif1b - Genetics
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