Tetragametic Chimerism

Tetragametic Chimerism

A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype – from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.

Synonyms

46,XX/46,XY chimerism

Age of Onset

Infancy and 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, male
  • Hypopigmented skin patches 
  • Micropenis 
  • Ovotestis 
  • Perineal hypospadias 
  • True hermaphroditism

Common Symptoms

Single transverse palmar crease

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