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Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate

BACKGROUND: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very hel...

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Autores principales: Nouri, Narges, Memarzadeh, Mehrdad, Salehi, Mansoor, Nouri, Nayereh, Meamar, Rokhsareh, Behnam, Mahdiyeh, Derakhshandeh, Fatemeh, Kashkoolinejad, Tahereh, Abdali, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220684/
https://www.ncbi.nlm.nih.gov/pubmed/28217639
http://dx.doi.org/10.4103/2277-9175.192728
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author Nouri, Narges
Memarzadeh, Mehrdad
Salehi, Mansoor
Nouri, Nayereh
Meamar, Rokhsareh
Behnam, Mahdiyeh
Derakhshandeh, Fatemeh
Kashkoolinejad, Tahereh
Abdali, Hossein
author_facet Nouri, Narges
Memarzadeh, Mehrdad
Salehi, Mansoor
Nouri, Nayereh
Meamar, Rokhsareh
Behnam, Mahdiyeh
Derakhshandeh, Fatemeh
Kashkoolinejad, Tahereh
Abdali, Hossein
author_sort Nouri, Narges
collection PubMed
description BACKGROUND: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment. MATERIALS AND METHODS: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%). CONCLUSION: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.
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spelling pubmed-52206842017-02-17 Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate Nouri, Narges Memarzadeh, Mehrdad Salehi, Mansoor Nouri, Nayereh Meamar, Rokhsareh Behnam, Mahdiyeh Derakhshandeh, Fatemeh Kashkoolinejad, Tahereh Abdali, Hossein Adv Biomed Res Original Article BACKGROUND: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment. MATERIALS AND METHODS: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%). CONCLUSION: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region. Medknow Publications & Media Pvt Ltd 2016-12-27 /pmc/articles/PMC5220684/ /pubmed/28217639 http://dx.doi.org/10.4103/2277-9175.192728 Text en Copyright: © 2016 Nouri. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Original Article
Nouri, Narges
Memarzadeh, Mehrdad
Salehi, Mansoor
Nouri, Nayereh
Meamar, Rokhsareh
Behnam, Mahdiyeh
Derakhshandeh, Fatemeh
Kashkoolinejad, Tahereh
Abdali, Hossein
Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title_full Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title_fullStr Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title_full_unstemmed Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title_short Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
title_sort prevalence of 22q11.2 microdeletion syndrome in iranian patients with cleft palate
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220684/
https://www.ncbi.nlm.nih.gov/pubmed/28217639
http://dx.doi.org/10.4103/2277-9175.192728
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