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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH - Ann Rehabil Med (2015)

Bottom Line: MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome.We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports.The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

ABSTRACT
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

No MeSH data available.


Related in: MedlinePlus

Chromosome analysis of the proband (A) and multiplex ligation-dependent probe amplification analysis using a subtelomeric probe set (P070) (B) showed a normal female karyotype for our patient. However, the oligonucleotide array comparative genomic hybridization profile (C) showed a 1.33-Mb sized deletion in the 5q14.3 region.
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Figure 3: Chromosome analysis of the proband (A) and multiplex ligation-dependent probe amplification analysis using a subtelomeric probe set (P070) (B) showed a normal female karyotype for our patient. However, the oligonucleotide array comparative genomic hybridization profile (C) showed a 1.33-Mb sized deletion in the 5q14.3 region.

Mentions: Both chromosomal analysis of the proband and multiplex ligation-dependent probe amplification (MLPA) analysis using a subtelomeric probe set (P070) showed an apparently normal female karyotype (Fig. 3A, 3B). However, on an assessment with array comparative genomic hybridization (CGH), a microdeletion in the chromosomal 5q14.3 region (Fig. 3C) was detected. Both of her parents showed a normal hybridization pattern in that region (data were not shown). The deleted region was about 1332.682 kb in size, starting from 88031637 and ending at 89364319, and according to the ISCA database, it included only one known OMIM gene, MEF2C. The number of probes was 928. The proband's karyotype was 46,XX.arr 5q14.3(88031637-89364319)x1 dn.


MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH - Ann Rehabil Med (2015)

Chromosome analysis of the proband (A) and multiplex ligation-dependent probe amplification analysis using a subtelomeric probe set (P070) (B) showed a normal female karyotype for our patient. However, the oligonucleotide array comparative genomic hybridization profile (C) showed a 1.33-Mb sized deletion in the 5q14.3 region.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496521&req=5

Figure 3: Chromosome analysis of the proband (A) and multiplex ligation-dependent probe amplification analysis using a subtelomeric probe set (P070) (B) showed a normal female karyotype for our patient. However, the oligonucleotide array comparative genomic hybridization profile (C) showed a 1.33-Mb sized deletion in the 5q14.3 region.
Mentions: Both chromosomal analysis of the proband and multiplex ligation-dependent probe amplification (MLPA) analysis using a subtelomeric probe set (P070) showed an apparently normal female karyotype (Fig. 3A, 3B). However, on an assessment with array comparative genomic hybridization (CGH), a microdeletion in the chromosomal 5q14.3 region (Fig. 3C) was detected. Both of her parents showed a normal hybridization pattern in that region (data were not shown). The deleted region was about 1332.682 kb in size, starting from 88031637 and ending at 89364319, and according to the ISCA database, it included only one known OMIM gene, MEF2C. The number of probes was 928. The proband's karyotype was 46,XX.arr 5q14.3(88031637-89364319)x1 dn.

Bottom Line: MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome.We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports.The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

ABSTRACT
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

No MeSH data available.


Related in: MedlinePlus