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Partial chromosome Y deletion
2 OMIM references -
8 associated genes
26 connected diseases
No signs/symptoms info
Disease Type of connection
45,X / 46,XY mixed gonadal dysgenesis
Hereditary nonpolyposis colon cancer
Estrogen resistance syndrome
17p13.3 microduplication syndrome
46,XY partial gonadal dysgenesis
Alternating hemiplegia of childhood
Aneurysm - osteoarthritis syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
B-cell chronic lymphocytic leukemia
Chuvash erythrocytosis
Common variable immunodeficiency
Dedifferentiated liposarcoma
Distal 17p13.3 microdeletion syndrome
Familial or sporadic hemiplegic migraine
Familial thoracic aortic aneurysm and aortic dissection
Miller-Dieker syndrome
Von Hippel-Lindau disease
Well-differentiated liposarcoma
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Synonym(s):
- Male sterility due to chromosome Y deletion
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic
External references:
2 OMIM references -
1 MeSH reference: C536297
No signs/symptoms info available.