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Results 1 - 10 of 15 for Partial autosomal deletion
  1. Distal 18q deletion syndrome 
    ... Hale DE, Fox PT. Myelination in children with partial deletions of chromosome 18q. AJNR Am J Neuroradiol. 2005 ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  2. 16p11.2 deletion syndrome 
    ... 2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  3. Heterotaxy syndrome 
    ... Visceral heterotaxy Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome Genetic Testing Registry: Heterotaxy, visceral, 5, autosomal Genetic Testing Registry: Visceral heterotaxy Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  4. Chromosome 22 
    ... Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995 Oct 23;59( ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  5. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  6. Dihydropyrimidine dehydrogenase deficiency 
    ... symptoms than do mutations that lead to a partial deficiency of this enzyme.Because fluoropyrimidine drugs are also ... dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/...ihydropyrimidine-dehydrogenase-deficiency - Genetics
  7. Chromosome 1 
    ... long arm of the chromosome in each cell (partial monosomy 1p or 1q), or a circular ... and conditions related to cancer. Deletions in the p arm of the chromosome have ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  8. Griscelli syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Genetic Testing Registry: Griscelli syndrome ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
  9. Primary spontaneous pneumothorax 
    ... M, Tukiainen P, Aittomaki K. A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes ...
    https://medlineplus.gov/.../primary-spontaneous-pneumothorax - Genetics
  10. Oculocutaneous albinism 
    ... Hammer MF, Brilliant MH. A 122.5-kilobase deletion of the P gene underlies the high prevalence ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
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