NONDISJUNCTION

General Information (adopted from Orphanet):

Synonyms, Signs: MIXOPLOIDY, FAMILIAL
MOSAICISM, CHROMOSOMAL
Number of Symptoms 5
OrphanetNr:
OMIM Id: 158250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000144) Decreased fertility 11 / 7739
2
(HPO:0002916) Abnormality of chromosome segregation 5 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Chromosomal mosaicism in cultured cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 165430), which may also predispose to chromosomal nondisjunction.
Clinical Description OMIM Hecht et al. (1964) reviewed evidence on the nonrandomness of chromosomal abnormalities, including Down syndrome (190685) and trisomy 18.

Hirschhorn (1968) and Weiner (1965) reported familial mosaicism. A 65-year-old man with classic chronic myeloid leukemia (CML; ...