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Related Experiment Videos

Trisomy 22 with holoprosencephaly: a clinicopathologic study.

N B Isada1, J C Bolan, J W Larsen

  • 1Department of Obstetrics and Gynecology, George Washington University Medical Center, Washington, DC 20037.

Teratology
|October 1, 1990
PubMed
Summary

Trisomy 22, a rare genetic condition, was identified in one twin fetus. This case highlights an unusual presentation with holoprosencephaly and other developmental abnormalities.

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Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Developmental Biology

Background:

  • Trisomy 22 is a chromosomal abnormality characterized by the presence of an extra copy of chromosome 22.
  • It is a rare condition, often associated with significant developmental issues.
  • This abstract details a unique case identified during twin gestation.

Observation:

  • A twin gestation at 17 weeks revealed one fetus with Trisomy 22 (47, XY, +22).
  • Prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency in the affected fetus.
  • The parents and the other twin exhibited normal karyotypes.

Findings:

  • Delivery at 36 weeks resulted in a healthy female and a macerated male fetus with Trisomy 22.
  • The trisomic fetus presented with holoprosencephaly, an uncommon feature for Trisomy 22.

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  • The affected male fetus was dysmorphic and weighed 642 grams.

    • Implications:

    • This case expands the known phenotypic spectrum of Trisomy 22.
    • The presence of holoprosencephaly in Trisomy 22 warrants further investigation.
    • Understanding such rare presentations aids in genetic counseling and prenatal management.