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Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification Cover

Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification

Asian Biomedicine
Volume 9 (2015): Issue 4 (August 2015)
By: Sinitdhorn Rujirabanjerd,  Oradawan Plong-on,  Thanya Sripo and  Pornprot Limprasert  
Open Access
|Jan 2017

Figures & Tables

Figure 1

Multiplex ligation-dependent probe amplification (MLPA) analysis results of all 5 positive cases. (A) 15q11.2 duplication. (B) Xp22.3 duplication (patient No. 2). (C) Xp22.3 duplication (patient No. 3). (D) 11p15.5 duplication. (E) 1p36.33 deletion. Results in (A–C, E) were screened by a SALSA MLPA P070-B1 Human Telomere-5 kit and a result in (D) was from a SALSA MLPA P036-E1 Human Telomere-3 kit.
Multiplex ligation-dependent probe amplification (MLPA) analysis results of all 5 positive cases. (A) 15q11.2 duplication. (B) Xp22.3 duplication (patient No. 2). (C) Xp22.3 duplication (patient No. 3). (D) 11p15.5 duplication. (E) 1p36.33 deletion. Results in (A–C, E) were screened by a SALSA MLPA P070-B1 Human Telomere-5 kit and a result in (D) was from a SALSA MLPA P036-E1 Human Telomere-3 kit.

Figure 2

Pedigree of a family with a duplication of the 15q11.2 region. All individuals marked with (*) were screened for the duplication (with written informed consent for publication).
Pedigree of a family with a duplication of the 15q11.2 region. All individuals marked with (*) were screened for the duplication (with written informed consent for publication).

Summary of MLPA results and clinical symptoms of all positive cases

PatientNo. DuplicationVerification MethodSexAgeOriginNeurological symptomsOther anomaly
115q11.2MLPAMale7de novoMR-
2Xp22.3MLPAMale6N/AMRN/A
3Xp22.3MLPAMale6N/AMRseizure- Bilateral cleft lips
- Left cleft palate
- Thalassemia hemoglobin E trait
411p15.5MLPAFemale3N/AMR- Choanal atresia
- Coloboma of right upper and lower eyelids
- Right cleft lip
Deletion
51p36.33Real-time PCRFemale1N/AMRFlat head with frontal bossing
DOI: https://doi.org/10.5372/1905-7415.0904.420 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
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Language: English
Page range: 501 - 509
Published on: Jan 31, 2017
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year
Keywords:
Autism,
mental retardation,
MLPA,
subtelomere
Related subjects:
Medicine,
Assistive professions, nursing,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Clinical medicine, other

© 2017 Sinitdhorn Rujirabanjerd, Oradawan Plong-on, Thanya Sripo, Pornprot Limprasert, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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