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Mosaic trisomy 14 with hepatic involvement

A Iglesias¹, L D McCurdy, I A Glass

¹Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

Annales De Genetique

|January 1, 1997

Summary

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Mosaic trisomy 14, a rare condition, presents with numerous congenital anomalies. This case highlights a male infant with growth failure and developmental delay, where uniparental disomy was ruled out.

Area of Science:

Genetics
Developmental Biology
Pediatrics

Background:

Mosaic trisomy 14 is a rare chromosomal abnormality in liveborn infants.
It can be associated with uniparental disomy in the normal cell line.
Clinical manifestations are highly variable.

Observation:

A 6-month-old male infant presented with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, and congenital anomalies.
These anomalies included neonatal hepatitis, cryptorchidism, talipes equinovarus, limb length asymmetry, and abnormal skin pigmentation.
The infant's karyotype was mosaic 47,XY,+14/46,XY, with normal parental chromosomes.

Findings:

Karyotype analysis revealed mosaic trisomy 14 in both lymphocytes and skin fibroblasts.

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Molecular testing ruled out uniparental disomy in the euploid cell line of the proband.

This suggests trisomy 14 mosaicism as the primary genetic cause for the observed phenotype.

Implications:

This case expands the phenotypic spectrum associated with mosaic trisomy 14.
It underscores the importance of comprehensive genetic analysis in infants with multiple congenital anomalies.
Understanding the genetic basis is crucial for accurate diagnosis and genetic counseling.