Premature Chromatid Separation Trait; Pcs

Description

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.

Clinical Features

Phenotypes and symptoms related to Premature Chromatid Separation Trait; Pcs

  • Short stature
  • Neoplasm
  • Carcinoma
  • Infertility
  • Spontaneous abortion
  • Decreased fertility
  • Premature chromatid separation
  • Keratoacanthoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Premature Chromatid Separation Trait; Pcs Is also known as total premature chromatid separation trait.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Premature Chromatid Separation Trait; Pcs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Colorectal Polyposis Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMPR1A, STK11, BUB1B, GREM1, ENG, APC, SMAD4, MUTYH, AXIN2, POLD1, POLE, PTEN
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMPR1A, STK11, BUB1B, EPCAM, TP53, CDH1, GALNT12, GREM1, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, AXIN2, PMS2, POLD1, POLE, PTEN
Specificity
5 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Mosaic Variegated Aneuploidy Syndrome via BUB1B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BUB1B
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center (Germany).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, HNF1A, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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