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<dc:title>A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review</dc:title>
<dc:creator>Fernandez, Luis</dc:creator>
<dc:creator>Nevado, Julian</dc:creator>
<dc:creator>Santos, Fernando</dc:creator>
<dc:creator>Heine-Suñer, Damián</dc:creator>
<dc:creator>Martinez-Glez, Victor</dc:creator>
<dc:creator>Garcia-Minaur, Sixto</dc:creator>
<dc:creator>Palomo, Rebeca</dc:creator>
<dc:creator>Delicado, Alicia</dc:creator>
<dc:creator>Pajares, Isidora Lopez</dc:creator>
<dc:creator>Palomares, Maria</dc:creator>
<dc:creator>Garcia-Guereta, Luis</dc:creator>
<dc:creator>Valverde, Eva</dc:creator>
<dc:creator>Hawkins, Federico</dc:creator>
<dc:creator>Lapunzina, Pablo</dc:creator>
<dc:subject>Gene Duplication</dc:subject>
<dc:subject>Nucleic Acid Amplification Techniques</dc:subject>
<dc:subject>Chromosome Deletion</dc:subject>
<dc:subject>Humans</dc:subject>
<dc:subject>Heart Septal Defects, Ventricular</dc:subject>
<dc:subject>Karyotyping</dc:subject>
<dc:subject>Infant</dc:subject>
<dc:subject>Polymorphism, Single Nucleotide</dc:subject>
<dc:subject>Chromosomes, Human, Pair 22</dc:subject>
<dc:subject>Heart Septal Defects, Atrial</dc:subject>
<dc:subject>Male</dc:subject>
<dc:subject>Gene Dosage</dc:subject>
<dc:subject>In Situ Hybridization, Fluorescence</dc:subject>
<dc:subject>Syndrome</dc:subject>
<dc:subject>Polimorfismo de Nucleótido Simple</dc:subject>
<dc:subject>Síndrome</dc:subject>
<dc:subject>Hibridación Fluorescente in Situ</dc:subject>
<dc:subject>Duplicación de Gen</dc:subject>
<dc:subject>Dosificación de Gen</dc:subject>
<dc:subject>Lactante</dc:subject>
<dc:subject>Masculino</dc:subject>
<dc:subject>Técnicas de Amplificación de Ácido Nucleico</dc:subject>
<dc:subject>Defectos del Tabique Interventricular</dc:subject>
<dc:subject>Cromosomas Humanos Par 22</dc:subject>
<dc:subject>Defectos del Tabique Interatrial</dc:subject>
<dc:subject>Deleción Cromosómica</dc:subject>
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<dc:description>Background: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</dc:description>
<dc:description>We thank patients and relatives for their kind cooperation. Written consent for publication was obtained from the patients' parents. We thank Anna Gonzalez-Neira from the Centro Nacional de Genotipado (CEGEN) for the Illumina Bead Scanner hybridization of samples and data analysis support. This work was enclosed in the project ''Estudio clinico, citogenetico y molecular del sindrome de microdelecion 22q11.2. Caracterizacion molecular de la region 22q11.2'' supported by the Fundacion de Investigacion Medica Mutua Madrilena, Madrid, Spain, to PL. The CIBER de Enfermedades Raras is an initiative of the ISCIII.</dc:description>
<dc:date>2021-08-25T11:54:55Z</dc:date>
<dc:date>2021-08-25T11:54:55Z</dc:date>
<dc:date>2009-06-02</dc:date>
<dc:type>research article</dc:type>
<dc:identifier>Fernandez L, Nevado J, Santos F, Heine-Suner D, Martinez-Glez Vi, Garcia-Minaur S, et al. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet. 2009 Jun 02;10:48.</dc:identifier>
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<dc:title>A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review</dc:title>
<dc:creator>Fernandez, Luis</dc:creator>
<dc:creator>Nevado, Julian</dc:creator>
<dc:creator>Santos, Fernando</dc:creator>
<dc:creator>Heine-Suñer, Damián</dc:creator>
<dc:creator>Martinez-Glez, Victor</dc:creator>
<dc:creator>Garcia-Minaur, Sixto</dc:creator>
<dc:creator>Palomo, Rebeca</dc:creator>
<dc:creator>Delicado, Alicia</dc:creator>
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<dc:description>Background: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</dc:description>
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<description>Background: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</description>
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<dcterms:abstract>Background: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</dcterms:abstract>
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<dc:description>Background: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</dc:description>
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