15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
Abstract Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various...
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| Format: | Article |
| Language: | English |
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BMC
2021-09-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | https://doi.org/10.1186/s13052-021-01121-5 |
| _version_ | 1818559943631962112 |
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| author | Yahya Benbouchta Nicole De Leeuw Saadia Amasdl Aziza Sbiti Dominique Smeets Khalid Sadki Abdelaziz Sefiani |
| author_facet | Yahya Benbouchta Nicole De Leeuw Saadia Amasdl Aziza Sbiti Dominique Smeets Khalid Sadki Abdelaziz Sefiani |
| author_sort | Yahya Benbouchta |
| collection | DOAJ |
| description | Abstract Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations. Case presentation We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A. Conclusion We report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA). |
| first_indexed | 2024-12-14T00:32:06Z |
| format | Article |
| id | doaj.art-5c796aaa3d7a4ab982bd4678fa3921b3 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-12-14T00:32:06Z |
| publishDate | 2021-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-5c796aaa3d7a4ab982bd4678fa3921b32022-12-21T23:24:49ZengBMCItalian Journal of Pediatrics1824-72882021-09-014711810.1186/s13052-021-01121-515q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature reviewYahya Benbouchta0Nicole De Leeuw1Saadia Amasdl2Aziza Sbiti3Dominique Smeets4Khalid Sadki5Abdelaziz Sefiani6Department of Medical Genetics, National Institute of HealthDepartment of Human Genetics, Radboud University Medical CenterDepartment of Medical Genetics, National Institute of HealthDepartment of Medical Genetics, National Institute of HealthResearch Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomic Center of Human Pathologies, Medical School and Pharmacy, University Mohammed VLaboratory of Human Pathology, Faculty of Sciences, Mohammed V UniversityDepartment of Medical Genetics, National Institute of HealthAbstract Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations. Case presentation We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A. Conclusion We report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).https://doi.org/10.1186/s13052-021-01121-515q26 deletionCHDArray-CGHCase report |
| spellingShingle | Yahya Benbouchta Nicole De Leeuw Saadia Amasdl Aziza Sbiti Dominique Smeets Khalid Sadki Abdelaziz Sefiani 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review Italian Journal of Pediatrics 15q26 deletion CHD Array-CGH Case report |
| title | 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review |
| title_full | 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review |
| title_fullStr | 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review |
| title_full_unstemmed | 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review |
| title_short | 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review |
| title_sort | 15q26 deletion in a patient with congenital heart defect growth restriction and intellectual disability case report and literature review |
| topic | 15q26 deletion CHD Array-CGH Case report |
| url | https://doi.org/10.1186/s13052-021-01121-5 |
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