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Isochromosome Y

MedGen UID:
1825987
•Concept ID:
C5681538
•
Cell or Molecular Dysfunction
Synonyms: Isochromosome type Y; isochromosome Y
 
Monarch Initiative: MONDO:0019935
Orphanet: ORPHA96325

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsochromosome Y

Professional guidelines

PubMed

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P
J Clin Endocrinol Metab 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. PMID: 28324009Free PMC Article
Prognostic Factors, Response to Treatment, and Survival in Patients With Chronic Myeloid Leukemia in Blast Phase: A Single-Institution Survey.
Pérez-Jacobo F, Tuna-Aguilar E, Demichelis-Gómez R, Crespo-Solís E, Valencia-Rocha U, Aguayo Á, López-Karpovitch X
Clin Lymphoma Myeloma Leuk 2015 Dec;15(12):778-84. Epub 2015 Sep 30 doi: 10.1016/j.clml.2015.09.007. PMID: 26500135

Recent clinical studies

Diagnosis

Rare case of monocentric isochromosome Y with inversion duplication of p arm in patient diagnosed with azoospermia.
Aftab A, Shankar K, Kar B
Andrologia 2020 Mar;52(2):e13501. Epub 2019 Dec 13 doi: 10.1111/and.13501. PMID: 31833082

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