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Patient with trisomy 6 mosaicism.

K R Miller¹, K Mühlhaus, R A Herbst

¹Department of Human Genetics, Hannover Medical University, Hannover, Germany. Miller.Konstantin@mh-hannover.de

American Journal of Medical Genetics

|April 12, 2001

Summary

This study reports the first liveborn case of trisomy 6 mosaicism, detected prenatally in a growth-restricted fetus. Despite initial malformations, the child shows relatively normal development at nearly three years old.

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Area of Science:

Genetics
Prenatal Diagnosis
Developmental Biology

Background:

Prenatal diagnosis often involves analyzing chorionic villi for chromosomal abnormalities.
Trisomy 6 is a rare chromosomal condition with limited data on liveborn outcomes.
Mosaicism, the presence of two or more cell lines with different genotypes, can complicate diagnosis and prognosis.

Observation:

A pregnancy with a growth-restricted fetus and increased nuchal translucency at 12 weeks gestation showed trisomy 6 in chorionic villi.
The infant was born prematurely with multiple congenital anomalies, including cardiac defects and limb malformations.
Trisomy 6 was not detected in peripheral blood lymphocytes but was confirmed in umbilical cord fibroblasts.

Findings:

Postnatal cytogenetic analysis confirmed trisomy 6 mosaicism in fibroblasts from umbilical cord and skin.

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The child, despite growth delay, exhibited relatively normal neurodevelopment by 2.75 years of age.

Papular erythema, suggestive of epidermal nevi, appeared around age two, with mosaic trisomy 6 confirmed in skin fibroblasts.

Implications:

This case highlights the importance of considering trisomy 6 mosaicism in prenatal diagnoses, especially with fetal growth restriction and nuchal translucency.
It demonstrates that liveborn infants with trisomy 6 mosaicism can have variable outcomes, with potential for relatively normal development.
Further research is needed to understand the long-term prognosis and phenotypic spectrum of trisomy 6 mosaicism.