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Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies)
M Guc-Scekic1, J Milasin, M Stevanovic
1Laboratory of Medical Genetics, Mother and Child Health Institute, Dr Vukan Cupic, Belgrade, Yugoslavia. scekic@msn.com
Insights
Liveborn infants with tetraploidy, a rare condition, typically have a short lifespan. This report details a 26-month-old tetraploidy patient, offering insights into rare chromosomal abnormalities and survival.
Area of Science:
- Genetics
- Human Embryology
- Pediatrics
Background:
- Tetraploidy (92, XXXX or 92, XXYY) is an extremely rare chromosomal abnormality in liveborn infants.
- Most infants with tetraploidy do not survive past the first few months of life, with only two previously reported cases surviving beyond 12 months.
Observation:
- This case report describes a 26-month-old female infant diagnosed with tetraploidy.
- The patient presented with characteristic clinical features including facial dysmorphism, severe growth restriction, and significant developmental delay.
Findings:
- Molecular studies were conducted to investigate the origin of the additional chromosome sets in the proband.
- This represents the longest-surviving reported case of tetraploidy to date.
Implications:
- This case expands the known survival data for infants with tetraploidy.
- Further research into the genetic and molecular underpinnings of tetraploidy may inform future management and understanding of this rare condition.
Abstract:
Liveborn infants with tetraploidy are very rare in human pregnancies and usually die during the first days or months. Seven cases of liveborn infants with tetraploidy have previously been reported. Among them only two 92, XXXX infants survived for longer than 12 months. Here we report on the case of a 26-month-old girl with tetraploidy. The main clinical features of tetraploidy are facial dysmorphism, severely delayed growth and developmental delay. On the basis of molecular studies we discuss the possible origin of the additional chromosome sets in our proband. To our knowledge, this infant is the first reported case of tetraploidy who lived up to 26 months.