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Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome.

Sheth F, Gohel N, Liehr T, Akinde O, Desai M, Adeteye O, Sheth J - Case Rep Genet (2012)

Bottom Line: This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter.Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case.This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

View Article: PubMed Central - PubMed

Affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India.

ABSTRACT
Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1-34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case. Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

No MeSH data available.


Related in: MedlinePlus

Multiplex-FISH (results were not shown) revealed a chromosome 4 origin of the additional material present on the derivative chromosome 5 (marked with an arrowhead throughout the figure). (a) Three-color FISH using a whole chromosome painting (wcp) probe for chromosome 5 (wcp 5, blue) with a partial chromosome painting (pcp) probe for the long (pcp 4q, green) and the short arm of chromosome 4 (pcp 4p, yellow) highlighting the origin of the additional material on derivative chromosome 5 as 4q derived. (b) A subtelomeric probe for 5pter (st 5pter, green) together with a locus-specific probe for CdCS (red) and a wcp 5 (blue), and the inverted DAPI-banding pattern characterized the breakpoint in chromosome 5 as 5p15.1 and in chromosome 4 as 4q31.3.
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fig2: Multiplex-FISH (results were not shown) revealed a chromosome 4 origin of the additional material present on the derivative chromosome 5 (marked with an arrowhead throughout the figure). (a) Three-color FISH using a whole chromosome painting (wcp) probe for chromosome 5 (wcp 5, blue) with a partial chromosome painting (pcp) probe for the long (pcp 4q, green) and the short arm of chromosome 4 (pcp 4p, yellow) highlighting the origin of the additional material on derivative chromosome 5 as 4q derived. (b) A subtelomeric probe for 5pter (st 5pter, green) together with a locus-specific probe for CdCS (red) and a wcp 5 (blue), and the inverted DAPI-banding pattern characterized the breakpoint in chromosome 5 as 5p15.1 and in chromosome 4 as 4q31.3.

Mentions: After application of the aforementioned probes combined with inverted DAPI-banding (results are shown in Figure 2); the final karyotype could be determined as 46,XY,der(5)t(4;5)(q31.3;p15.1).


Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome.

Sheth F, Gohel N, Liehr T, Akinde O, Desai M, Adeteye O, Sheth J - Case Rep Genet (2012)

Multiplex-FISH (results were not shown) revealed a chromosome 4 origin of the additional material present on the derivative chromosome 5 (marked with an arrowhead throughout the figure). (a) Three-color FISH using a whole chromosome painting (wcp) probe for chromosome 5 (wcp 5, blue) with a partial chromosome painting (pcp) probe for the long (pcp 4q, green) and the short arm of chromosome 4 (pcp 4p, yellow) highlighting the origin of the additional material on derivative chromosome 5 as 4q derived. (b) A subtelomeric probe for 5pter (st 5pter, green) together with a locus-specific probe for CdCS (red) and a wcp 5 (blue), and the inverted DAPI-banding pattern characterized the breakpoint in chromosome 5 as 5p15.1 and in chromosome 4 as 4q31.3.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3539376&req=5

fig2: Multiplex-FISH (results were not shown) revealed a chromosome 4 origin of the additional material present on the derivative chromosome 5 (marked with an arrowhead throughout the figure). (a) Three-color FISH using a whole chromosome painting (wcp) probe for chromosome 5 (wcp 5, blue) with a partial chromosome painting (pcp) probe for the long (pcp 4q, green) and the short arm of chromosome 4 (pcp 4p, yellow) highlighting the origin of the additional material on derivative chromosome 5 as 4q derived. (b) A subtelomeric probe for 5pter (st 5pter, green) together with a locus-specific probe for CdCS (red) and a wcp 5 (blue), and the inverted DAPI-banding pattern characterized the breakpoint in chromosome 5 as 5p15.1 and in chromosome 4 as 4q31.3.
Mentions: After application of the aforementioned probes combined with inverted DAPI-banding (results are shown in Figure 2); the final karyotype could be determined as 46,XY,der(5)t(4;5)(q31.3;p15.1).

Bottom Line: This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter.Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case.This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

View Article: PubMed Central - PubMed

Affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India.

ABSTRACT
Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1-34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case. Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

No MeSH data available.


Related in: MedlinePlus