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Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC - Mol Cytogenet (2009)

Bottom Line: Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15.The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Biological Sciences, University of Delaware, Newark, USA.

ABSTRACT
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.

No MeSH data available.


Related in: MedlinePlus

Characterization of translocation chromosomes by metaphase FISH. The two der(15) chromosomes revealed hybridization signals for clones up to BP4 and no signal distal to BP5. Der(9) chromosome revealed hybridization signal for pDJ184n23, which is distal to BP5. A) Schematic representation of chromosomes 9, 15 and the derivative chromosomes. In panels B-F, red signals represent pcm15, a chromosome 15 centromere probe. The positions of the other clones used for FISH are shown in Figure 2A. Chromosomes 9, 15 and the derivative chromosomes are indicated in each panel. B) Green signals represent clone 770c6, which lies in proximal to BP2. C) Green signals represent clone pDJ437h9, which lies in the BP2-BP3 interval. D) Green signals represent clone pDJ9i9, a BP2-BP3 probe that lies just proximal to BP3. E) Green signals represent clone pDJ204m06, which lies between BP3-BP4. F) Green signals represent clone pDJ184n23, which lies distal to BP5.
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Figure 3: Characterization of translocation chromosomes by metaphase FISH. The two der(15) chromosomes revealed hybridization signals for clones up to BP4 and no signal distal to BP5. Der(9) chromosome revealed hybridization signal for pDJ184n23, which is distal to BP5. A) Schematic representation of chromosomes 9, 15 and the derivative chromosomes. In panels B-F, red signals represent pcm15, a chromosome 15 centromere probe. The positions of the other clones used for FISH are shown in Figure 2A. Chromosomes 9, 15 and the derivative chromosomes are indicated in each panel. B) Green signals represent clone 770c6, which lies in proximal to BP2. C) Green signals represent clone pDJ437h9, which lies in the BP2-BP3 interval. D) Green signals represent clone pDJ9i9, a BP2-BP3 probe that lies just proximal to BP3. E) Green signals represent clone pDJ204m06, which lies between BP3-BP4. F) Green signals represent clone pDJ184n23, which lies distal to BP5.

Mentions: FISH was performed with cosmid clones pDJ77oC6, 437h9, pDJ69i9, pDJ204m06 and pDJ184n23 (Figure 3A-3E). These studies revealed single hybridization signals on each of the der(15) chromosomes for the probes proximal to BP4 and no signal on the der(15) for probe184n23, which lies distal to BP5 (Figure 3F). These studies confirmed the presence of a non-mosaic translocation chromosome that extended through pDJ204m06 at 15q13.2 (27.8 Mb).


Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC - Mol Cytogenet (2009)

Characterization of translocation chromosomes by metaphase FISH. The two der(15) chromosomes revealed hybridization signals for clones up to BP4 and no signal distal to BP5. Der(9) chromosome revealed hybridization signal for pDJ184n23, which is distal to BP5. A) Schematic representation of chromosomes 9, 15 and the derivative chromosomes. In panels B-F, red signals represent pcm15, a chromosome 15 centromere probe. The positions of the other clones used for FISH are shown in Figure 2A. Chromosomes 9, 15 and the derivative chromosomes are indicated in each panel. B) Green signals represent clone 770c6, which lies in proximal to BP2. C) Green signals represent clone pDJ437h9, which lies in the BP2-BP3 interval. D) Green signals represent clone pDJ9i9, a BP2-BP3 probe that lies just proximal to BP3. E) Green signals represent clone pDJ204m06, which lies between BP3-BP4. F) Green signals represent clone pDJ184n23, which lies distal to BP5.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2803171&req=5

Figure 3: Characterization of translocation chromosomes by metaphase FISH. The two der(15) chromosomes revealed hybridization signals for clones up to BP4 and no signal distal to BP5. Der(9) chromosome revealed hybridization signal for pDJ184n23, which is distal to BP5. A) Schematic representation of chromosomes 9, 15 and the derivative chromosomes. In panels B-F, red signals represent pcm15, a chromosome 15 centromere probe. The positions of the other clones used for FISH are shown in Figure 2A. Chromosomes 9, 15 and the derivative chromosomes are indicated in each panel. B) Green signals represent clone 770c6, which lies in proximal to BP2. C) Green signals represent clone pDJ437h9, which lies in the BP2-BP3 interval. D) Green signals represent clone pDJ9i9, a BP2-BP3 probe that lies just proximal to BP3. E) Green signals represent clone pDJ204m06, which lies between BP3-BP4. F) Green signals represent clone pDJ184n23, which lies distal to BP5.
Mentions: FISH was performed with cosmid clones pDJ77oC6, 437h9, pDJ69i9, pDJ204m06 and pDJ184n23 (Figure 3A-3E). These studies revealed single hybridization signals on each of the der(15) chromosomes for the probes proximal to BP4 and no signal on the der(15) for probe184n23, which lies distal to BP5 (Figure 3F). These studies confirmed the presence of a non-mosaic translocation chromosome that extended through pDJ204m06 at 15q13.2 (27.8 Mb).

Bottom Line: Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15.The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Biological Sciences, University of Delaware, Newark, USA.

ABSTRACT
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.

No MeSH data available.


Related in: MedlinePlus