Related Experiment Video
Updated: May 12, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Live-born trisomy 22: patient report and review
1Department of Human Genetics, University of Würzburg, Würzburg, Germany.
Trisomy 22, a rare condition in live births, presents severe challenges. This case highlights a male infant with complete trisomy 22, offering insights into survival beyond birth.
Area of Science:
- Genetics
- Human Biology
- Medical Genetics
Background:
- Trisomy 22 is frequently observed in spontaneous abortions.
- Live-born infants with trisomy 22 are rare due to significant congenital malformations.
Purpose of the Study:
- To report a case of a live-born infant with complete, non-mosaic trisomy 22.
- To document the clinical presentation and outcome of this rare condition.
Main Methods:
- Karyotyping of peripheral blood lymphocytes and fibroblasts.
- Array comparative genomic hybridization (array CGH) for confirmation.
- Clinical assessment and documentation of phenotypic features.
Main Results:
- A male infant with 47,XY,+22 karyotype was identified.
- Confirmed complete trisomy 22 via array CGH.
- Clinical features included dysmorphic facial features, cleft palate, anal atresia, and hypospadias.
- The infant survived for 29 days, succumbing to respiratory and renal complications.
Conclusions:
- Complete trisomy 22 can result in live birth despite severe malformations.
- This case adds to the limited understanding of trisomy 22 survival.
- Early diagnosis and supportive care are crucial for managing affected infants.
More Related Videos
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
Related Concept Videos
Karyotyping
Karyotyping
Meiosis I
Nondisjunction
Nondisjunction
Nondisjunction