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Updated: Jul 19, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent
Agnieszka Stembalska1, Izabela Laczmanska, Kamila Schlade-Bartusiak
1Department of Genetics, Wroclaw Medical University, Marcinkowskiego, 150-368 Wroclaw, Poland.
European Journal of Pediatrics
|October 3, 2006
Summary
A chromosome 4 inversion can lead to a recombinant 4 chromosome, causing partial 4p duplication and 4q deletion. This study supports recombinant 4 parental syndrome as a distinct clinical entity based on observed phenotypes.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Pericentric inversions of chromosome 4, specifically inv(4)(p14q35), can result in recombinant chromosomes.
- Recombinant chromosome 4 [rec(4)] leads to partial 4p duplication and 4q deletion in offspring.
- The classification of recombinant 4p syndrome as a distinct clinical entity remains debated.
Purpose of the Study:
- To investigate the clinical presentation of recombinant 4p syndrome.
- To evaluate whether recombinant 4 parental syndrome is a recognizable clinical entity.
- To report a family with two affected siblings inheriting a rec(4) chromosome.
Main Methods:
- Clinical case study of two sisters diagnosed with rec(4).
- Genetic analysis of the family, including the carrier mother.
- Phenotypic comparison with existing literature on dup(4p) cases.
Main Results:
- Both sisters presented with phenotypes consistent with rec(4) syndrome.
- The rec(4) chromosome resulted from a maternal pericentric inversion inv(4)(p14q35).
- The observed phenotypes support the recognition of rec(4) parental syndrome.
Conclusions:
- The clinical symptoms observed in the probands support recombinant 4 parental syndrome as a distinct entity.
- This syndrome should be suspected in cases with a characteristic pattern of clinical symptoms.
- This is the second reported family with multiple affected individuals due to parental pericentric inversion of chromosome 4.
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