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Pseudo-trisomy 13 syndrome.

M M Cohen1, R J Gorlin

  • 1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

American Journal of Medical Genetics
|June 11, 1991
PubMed
Summary
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Pseudo-trisomy 13 syndrome, characterized by severe congenital defects and normal chromosomes, is described. Evidence suggests possible autosomal recessive inheritance or genetic heterogeneity, requiring further research.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Dysmorphology

Background:

  • Holoprosencephaly and severe facial anomalies are complex congenital conditions.
  • Postaxial polydactyly is a common limb malformation.
  • Chromosomal abnormalities are frequently associated with multiple congenital defects.

Observation:

  • Eleven cases of holoprosencephaly, facial anomalies, postaxial polydactyly, and other defects with normal chromosomes were identified.
  • Two families showed consanguinity, suggesting a potential genetic link.
  • The term "pseudo-trisomy 13 syndrome" was coined to describe this specific phenotype.

Findings:

  • The observed pattern, particularly with familial cases, suggests autosomal recessive inheritance.
  • Alternatively, undetected microdeletions or genetic heterogeneity, including new dominant mutations, are considered.

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  • The chromosomal status is normal, differentiating these cases from true trisomy 13.

    • Implications:

    • This research highlights a distinct syndrome with potential genetic underpinnings.
    • Further studies are needed to elucidate the precise genetic etiology and mechanisms.
    • Understanding pseudo-trisomy 13 syndrome is crucial for genetic counseling and diagnosis.