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Acrocentric chromosome polymorphisms: beware of cryptic translocations.
B Benzacken1, F Monier-Gavelle, J P Siffroi
1Service d'Histologie, Embryologie, Cytogénétique et Biologie de la Reproduction, Hôpital Jean Verdier, 93 Bondy, France.
Prenatal Diagnosis
|March 10, 2001
Summary
Cryptic translocations can be missed, even in prenatal karyotypes. Advanced testing revealed an unbalanced translocation causing Beckwith-Wiedemann syndrome (BWS) after birth, highlighting the need for careful analysis of chromosomal markers.
Area of Science:
- Cytogenetics
- Human Genetics
- Developmental Biology
Background:
- Cryptic chromosomal translocations can evade detection, particularly when involving polymorphic regions.
- Prenatal diagnosis relies on accurate karyotyping, but subtle rearrangements may be overlooked.
Observation:
- A case of Beckwith-Wiedemann syndrome (BWS) was diagnosed postnatally.
- Initial fetal karyotyping identified a common acrocentric short arm polymorphism on chromosome 14, which was not recognized as a translocation.
Findings:
- Further cytogenetic analyses, including C-banding, NOR staining, and FISH with telomeric probes, identified an unbalanced de novo t(11;14)(p15;p13) translocation.
- This translocation resulted in partial 11p trisomy, leading to the development of BWS.
Implications:
- This case underscores the importance of thorough investigation of apparently benign chromosomal markers during prenatal diagnosis.
- Advanced molecular cytogenetic techniques are crucial for detecting cryptic translocations that can cause genetic syndromes like BWS.
- Improved prenatal cytogenetic management strategies are needed to address such complex cases.