PREMATURE CHROMATID SEPARATION TRAIT

General Information (adopted from Orphanet):

Synonyms, Signs: TOTAL PREMATURE CHROMATID SEPARATION TRAIT
PCS
Number of Symptoms 6
OrphanetNr:
OMIM Id: 176430
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200024) Premature chromatid separation 3 / 7739
2
(OMIM) Premature chromatid separation (PCS) observed in 5% to 50% cultured lymphocytes during metaphase 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) PCS shows separate and splayed chromatids with discernible centromeres 1 / 7739
5
(OMIM) PCS involves most of all chromosomes of a metaphase 1 / 7739
6
(OMIM) Shortened metaphase 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal ...
Clinical Description OMIM Rudd et al. (1983) observed an increased frequency of mitoses with separated centromeres and splayed chromatids in the presence of colcemid in short-term lymphocyte cultures from 3 unrelated persons. The individuals were referred for chromosome studies: a 27-year-old ...
Molecular genetics OMIM In a patient with MVA syndrome who was compound heterozygous for mutations in the BUB1B gene, Hanks et al. (2004) found that one mutation was inherited from the father and the other from the mother; both parents had ...