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Isochromosome 22 in trisomy 22 mosaic with five cell lines
Carol Guzé1, Naigeng Qin, JoAnn Kelly
1Genetics Unit, Department of Obstetrics and Gynecology, King Drew Medical Center, 12021 S. Wilmington Avenue, Los Angeles, CA 90059, USA. carol@carolguze.com
American Journal of Medical Genetics. Part A
|December 18, 2003
Summary
This case report details a male infant diagnosed with trisomy 22, caused by an isochromosome 22. The infant presented with multiple dysmorphic features and sadly passed away shortly after birth.
Area of Science:
- Genetics
- Human Embryology
- Pediatric Pathology
Background:
- Trisomy 22 is a rare chromosomal abnormality.
- Isochromosome 22 can lead to severe developmental issues.
Observation:
- A full-term male infant presented with trisomy 22, specifically due to an isochromosome 22.
- Prenatal diagnosis revealed mosaicism with an isochromosome 22 and a deleted isochromosome 22 in amniotic fluid.
- Postnatal cytogenetic analysis of cord blood, umbilical cord tissue, and placenta showed additional cell lines, including normal cells in umbilical cord tissue and placenta.
Findings:
- The infant exhibited numerous dysmorphic features consistent with severe chromosomal abnormalities.
- Mosaicism for isochromosome 22 was confirmed across multiple tissues.
- The presence of normal cell lines did not prevent a fatal outcome.
Implications:
- This case highlights the complex genetic landscape of isochromosome 22 mosaicism.
- It underscores the challenges in predicting clinical outcomes in chromosomal abnormalities.
- Further research into the role of mosaicism in developmental disorders is warranted.