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Related Experiment Video

Updated: Jul 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Pseudo-trisomy 13 syndrome: report of one case.

F J Tsai¹, C H Tsai

¹Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.

Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui

|November 1, 1992

Summary

A novel syndrome, termed pseudo-trisomy 13 syndrome, presents with holoprosencephaly, midline facial defects, and polydactyly, despite normal chromosomes. This report details the first documented Chinese case of this rare condition.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Trisomy 13 (Patau syndrome) is a severe chromosomal disorder.
Holoprosencephaly and midline facial defects are common features in chromosomal abnormalities.
Postaxial polydactyly is a limb malformation that can occur in various genetic syndromes.

Observation:

A rare syndrome presenting with holoprosencephaly, midline facial defects, and postaxial polydactyly was observed.
The syndrome was distinguished by the absence of chromosomal abnormalities, specifically normal karyotype.
This condition shares phenotypic similarities with trisomy 13, leading to the designation "pseudo-trisomy 13 syndrome".

Findings:

The study describes a new syndrome with a distinct combination of congenital anomalies.

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Normal chromosomal analysis in affected individuals differentiates it from true trisomy 13.

This represents the first reported case of pseudo-trisomy 13 syndrome in the Chinese population.

Implications:

This finding expands the spectrum of known genetic and developmental disorders.
Recognition of pseudo-trisomy 13 syndrome is crucial for accurate diagnosis and genetic counseling.
Further research is needed to elucidate the genetic etiology and underlying mechanisms of this syndrome.