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Trisomy 1 in a clinically recognized IVF pregnancy.

T M Dunn1, L Grunfeld, N B Kardon

  • 1Department of Human Genetics, Mount Sinai Medical Center, New York, New York 10029, USA. Teresa.Dunn@mssm.edu

American Journal of Medical Genetics
|March 10, 2001
PubMed
Summary
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This study reports the second known case of full trisomy 1, a rare chromosomal abnormality. This finding advances understanding of chromosomal disorders and their impact on early development.

Area of Science:

  • Human Genetics
  • Reproductive Biology
  • Cytogenetics

Background:

  • Most chromosomal trisomies result in spontaneous abortion.
  • Trisomies for all human chromosomes have been documented.
  • Trisomy 1 is the last human chromosome trisomy to be identified.

Observation:

  • A second case of full trisomy 1 was identified in products of conception.
  • The patient conceived via in vitro fertilization (IVF).
  • Early pregnancy monitoring included hormonal assays and ultrasound, which confirmed implantation but lack of fetal heartbeat.

Findings:

  • Cytogenetic analysis of chorionic villi revealed a 47,XY,+1 chromosomal complement in all cells.
  • This represents the second documented instance of full trisomy 1 in medical literature.

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Implications:

  • This case contributes to the limited understanding of full trisomy 1.
  • Further research is needed to elucidate the mechanisms and consequences of this rare chromosomal condition.
  • The findings may inform genetic counseling for individuals undergoing assisted reproductive technologies.