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Results 41 - 50 of 56 for Autosomal chromosomal disorder
  1. Liebenberg syndrome 
    ... syndrome. PITX1 ... C, Ennis S, Betts DR, Eadie PA, Lynch SA. A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. ...
    https://medlineplus.gov/genetics/condition/liebenberg-syndrome - Genetics
  2. 22q11.2 duplication 
    ... The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication ... Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009 Mar-Jun; ...
    https://medlineplus.gov/genetics/condition/22q112-duplication - Genetics
  3. Chromosome 22 
    ... Citation on PubMed McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J ... 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009 Mar-Jun; ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  4. Gorlin syndrome 
    ... Gorlin syndrome can also be associated with a chromosomal change called a 9q22.3 ... in people with no history of the disorder in their family.Having one mutated copy of ...
    https://medlineplus.gov/genetics/condition/gorlin-syndrome - Genetics
  5. Meesmann corneal dystrophy 
    ... KRT12 KRT3 ... Shimomura Y, Kinoshita S. Isolation and chromosomal localization of a cornea-specific human keratin 12 ...
    https://medlineplus.gov/.../condition/meesmann-corneal-dystrophy - Genetics
  6. Trisomy 13 
    ... 13 syndrome Trisomy 13 ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/trisomy-13 - Genetics
  7. PDE6H gene 
    ... very rare cause of a form of the disorder called incomplete achromatopsia. This condition is ... Okubo K. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  8. Leydig cell hypoplasia 
    ... Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female ... is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia - Genetics
  9. Retinoblastoma 
    ... 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to ... Baud O, ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
  10. Heterotaxy syndrome 
    ... in determining left-right asymmetry is unknown. Rarely, chromosomal changes such as insertions, ... is sufficient to cause the disorder. Autosomal recessive inheritance means that both copies of ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
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