PREMATURE CENTROMERE DIVISION

General Information (adopted from Orphanet):

Synonyms, Signs: X-CHROMOSOME CENTROMERE PECULIARITY
PCD
Number of Symptoms 5
OrphanetNr:
OMIM Id: 212790
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(OMIM) Aneuploidy of the X chromosome 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) PCD shows separate and rod-shaped X chromosomes without discernible centromeres 1 / 7739
5
(OMIM) Premature centromere division (PCD) of the X chromosome observed in cultured lymphocytes during metaphase 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fitzgerald (1975) observed X chromosome aneuploidy in cultured lymphocytes of aging women.

Fitzgerald et al. (1975) studied a family in which 2 sisters had an unusually high frequency of this finding (in 10% of cells). Cell ...