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Premature chromatid separation trait(PCS)

MedGen UID:
400517
Concept ID:
C1864389
Disease or Syndrome
Synonyms: PCS; TOTAL PREMATURE CHROMATID SEPARATION TRAIT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): BUB1B (15q15.1)
OMIM®: 176430

Definition

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 individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004). See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon. [from OMIM]

Clinical features

Premature chromatid separation
MedGen UID:
867516
Concept ID:
C4021899
Cell or Molecular Dysfunction
The presence of premature sister chromatid segregation.

Recent clinical studies

Prognosis

Kajii T, Kawai T, Takumi T, Misu H, Mabuchi O, Takahashi Y, Tachino M, Nihei F, Ikeuchi T
Am J Med Genet 1998 Jul 7;78(3):245-9. PMID: 9677059

Clinical prediction guides

Kajii T, Kawai T, Takumi T, Misu H, Mabuchi O, Takahashi Y, Tachino M, Nihei F, Ikeuchi T
Am J Med Genet 1998 Jul 7;78(3):245-9. PMID: 9677059

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