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Updated: Aug 13, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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.
Insights
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.
- 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.
Abstract:
Mosaic trisomy 14 in liveborns is rare and may be accompanied by uniparental disomy in the euploid cell line. We report the case of a 6 month old male with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, congenital heart disease, neonatal hepatitis, cryptorchidism, talipes equinovarus, limb length asymmetry, bilateral overriding of 1st by 2nd toe, and extended abnormal pigmentation in a linear-whorl distribution. The proband's karyotype in peripheral lymphocytes and skin fibroblasts was mos47,XY,+14/46,XY. Parental blood chromosomes were normal. Molecular analysis excluded uniparental disomy in the euploid cell line of the proband.
