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De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed
G Curotti1, M Benkhalifa, C Raybaud
1Laboratoire Marcel Mérieux, Lyon, France.
Genetic Counseling (Geneva, Switzerland)
|November 5, 1999
Insights
A child
Area of Science:
- Genetics
- Clinical Medicine
Background:
- Complex chromosomal rearrangements (CCRs) are rare genetic abnormalities.
- These rearrangements can lead to a variety of developmental and physical abnormalities.
Observation:
- A child presented with multiple congenital anomalies including ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low-set ears, hirsutism, and pectus excavatum.
- The child also exhibited developmental and language delay.
Findings:
- Karyotyping using R-banding, G-banding, and fluorescence in situ hybridization (FISH) revealed a balanced complex chromosomal rearrangement.
- This specific CCR involved five breakpoints across chromosomes 1, 7, 10, and 21.
Implications:
- This case highlights the phenotypic variability associated with CCRs.
- Accurate cytogenetic characterization is crucial for understanding the genetic basis of complex congenital anomalies and developmental delays.
Abstract:
We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.