Tetragametic Chimerism

Tetragametic Chimerism

Tetragametic Chimerism is a rare condition.

This is a sex chromosome disorder of sex development.

This condition is characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype.

This variable phenotype might be from normal male or female genitalia, to different degrees of ambiguous genitalia, and often may be infertility problems as well.

There is a possibility that it can be confined to blood of both twins, especially in the cases of monochorionic dizygotic twins.

The different tissues of tetragametic chimeras are made up of cells derived from one or both zygotes; for example, while one tissue type may consist of cells from one zygote, other tissues may consist of cells from the other zygote or may be cellular composites of both zygotes.

Synonyms

46,XX/46,XY chimerism

Age of Onset

  • Infancy
  • Neonatal

What are the symptoms of Tetragametic Chimerism

Very Common Symptoms

  • Abnormal cellular immune system morphology 
  • Abnormal testis morphology
  • Abnormality of multiple cell lineages in the bone marrow 
  • Abnormality of the ovary 
  • Abnormality of the scrotum 
  • Ambiguous genitalia 
  • Bifid scrotum 
  • Blood group antigen abnormality
  • Clitoromegaly
  • Cryptorchidism 
  • Gonadal dysgenesis with female appearance in males
  • Hypopigmented skin patches 
  • Micropenis 
  • Ovotestis 
  • Perineal hypospadias 
  • True hermaphroditism

Common Symptoms

Single transverse palmar crease

How is tetragametic chimerism detected?

Tetragametic chimerism can be detected by the analysis of cytogenetics and analysis of polymorphic genetic markers, using patterns of pedigree inheritance.

These methodologies include the below

  • determination of sex chromosomes,
  • major histocompatibility complex (MHC) polymorphisms
  • panels of short tandem repeats (STRs) that include mitochondrial DNA markers.
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