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Literature DB >> 9279768

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

P Stankiewicz¹, E Kostyk, E Bocian, H Stańczak, J Parczewska, E Piatkowska, T Mazurczak, J J Pietrzyk.

Abstract

A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.

Entities: Disease Species

Mesh：

Year: 1997 PMID： 9279768 PMCID： PMC1051038 DOI： 10.1136/jmg.34.8.696

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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References

10 in total

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Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

1. No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.

2. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.

3. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.

4. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

5. Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization.

6. Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis.

Review 7. Complex chromosomal rearrangements (CCR) and their genetic consequences.

8. Complex chromosome rearrangements. Report of a new case and literature review.

9. Complex chromosome rearrangements and congenital anomalies.

Review 10. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.