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Related Experiment Video

Updated: Jul 2, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

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Published on: December 4, 2021

Edwards syndrome with double trisomy.

J Tennakoon¹, Y Kandasamy, G Alcock

¹Neonatal Intensive Care Unit, The Townsville Hospital, Douglas, QLD 4814, Australia.

Singapore Medical Journal

|August 13, 2008

Summary

This summary is machine-generated.

This study reports a rare case of double trisomy (48XYY, +18) in a male neonate, presenting features consistent with trisomy 18. The findings contribute to understanding rare chromosomal abnormalities and their clinical manifestations.

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Area of Science:

Genetics
Human Chromosome Abnormalities

Background:

Double trisomy, involving extra copies of two different chromosomes, is an exceptionally rare condition.
Trisomy 18 (Edwards syndrome) is a well-known genetic disorder characterized by numerous developmental abnormalities.

Observation:

A male neonate presented with clinical features indicative of trisomy 18.
Karyotype analysis confirmed a diagnosis of double trisomy, specifically 48XYY, +18.

Findings:

The patient exhibited the characteristic features associated with trisomy 18.
The karyotype revealed an extra Y chromosome alongside an extra chromosome 18.

Implications:

This case highlights the occurrence of double trisomy involving the Y chromosome and chromosome 18.
The rarity of Y-chromosome involvement in trisomy 18 may warrant further investigation into sex-specific genetic factors.