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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.
Annales De Genetique
|January 1, 1997
Summary
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.
