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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

Partial karyotype of patient showing additional material on chromosome 5p as indicated by the arrow.
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fig1: Partial karyotype of patient showing additional material on chromosome 5p as indicated by the arrow.

Mentions: Cytogenetic study was carried out using peripheral blood lymphocytes for GTG-banding analysis according to the standard procedures. Thirty metaphases were analyzed at 550 bands resolution and karyotyped as per ISCN 2009 [2] guidelines. Metaphase analysis showed additional material of unidentifiable origin at the short arm of one chromosome 5, that is, a karyotype 46,XY,der(5)add(5)(p15;?) (Figure 1). Further molecular cytogenetic characterization of the additional genetic material was carried using FISH. Inheritance could not be established as parents refused to undergo any further investigations.


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)

Partial karyotype of patient showing additional material on chromosome 5p as indicated by the arrow.
© Copyright Policy
Related In: Results  -  Collection

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

fig1: Partial karyotype of patient showing additional material on chromosome 5p as indicated by the arrow.
Mentions: Cytogenetic study was carried out using peripheral blood lymphocytes for GTG-banding analysis according to the standard procedures. Thirty metaphases were analyzed at 550 bands resolution and karyotyped as per ISCN 2009 [2] guidelines. Metaphase analysis showed additional material of unidentifiable origin at the short arm of one chromosome 5, that is, a karyotype 46,XY,der(5)add(5)(p15;?) (Figure 1). Further molecular cytogenetic characterization of the additional genetic material was carried using FISH. Inheritance could not be established as parents refused to undergo any further investigations.

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