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Saberi, Mozhgan, Mahjoubi, Frouzandeh. (1401). Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report. سامانه مدیریت نشریات علمی, 47(5), 494-499. doi: 10.30476/ijms.2021.89353.2039
Mozhgan Saberi; Frouzandeh Mahjoubi. "Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report". سامانه مدیریت نشریات علمی, 47, 5, 1401, 494-499. doi: 10.30476/ijms.2021.89353.2039
Saberi, Mozhgan, Mahjoubi, Frouzandeh. (1401). 'Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report', سامانه مدیریت نشریات علمی, 47(5), pp. 494-499. doi: 10.30476/ijms.2021.89353.2039
Saberi, Mozhgan, Mahjoubi, Frouzandeh. Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report. سامانه مدیریت نشریات علمی, 1401; 47(5): 494-499. doi: 10.30476/ijms.2021.89353.2039

Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report

Iranian Journal of Medical Sciences
مقاله 12، دوره 47، شماره 5، آذر 2022، صفحه 494-499    اصل مقاله (2.2 M)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2021.89353.2039
نویسندگان
Mozhgan Saberi؛ Frouzandeh Mahjoubi*
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotecnology, Tehran, Iran
چکیده
Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay. We report a case of a seven-year-old girl with simultaneous 9p24.3 deletion and 8p23.3 duplication detected using multiplex ligation-dependent probe amplification (MLPA). Chromosomal and cytogenetic analyses using MLPA are effective in assessing genetic abnormalities in patients with developmental delay and mental retardation. We found breakpoints at 9p24.3 and duplication in the 8p23.3 region, leading to a wide variety of manifestations including speech delay, upslanting palpebral fissures, hypertelorism, epicanthal fold, high arched eyebrows, flat nasal bridge, thin upper lip, and cleft palate. Simultaneous detection of 9p24.3 deletion and 8p23.3 duplication has been rarely reported. Clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A, member 2) gene located at 9p24.3.
کلیدواژه‌ها
Chromosome disorders؛ Chromosome 9p deletion syndrome؛ Cytogenetics؛ Chromosome aberrations؛ Multiplex polymerase chain reaction
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مراجع
  1. McKusick VA [Internet]. Online Mendelian inheritance in man, OMIM. [cited 2021 May 26]. Available from: http://www.ncbi.nlm.nih.gov/omim
  2. Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, et al. Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report. Mol Cytogenet. 2009;2:14. doi: 10.1186/1755-8166-2-14. PubMed PMID: 19566937; PubMed Central PMCID: PMCPMC2715415.
  3. Ejaz R, Babul-Hirji R, Chitayat D. The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. Clin Case Rep. 2016;4:351-5. doi: 10.1002/ccr3.425. PubMed PMID: 27099726; PubMed Central PMCID: PMCPMC4831382.
  4. Sanchez AI, Rojas JA. A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. Case Rep Genet. 2017;2017:8639617. doi: 10.1155/2017/8639617. PubMed PMID: 28948053; PubMed Central PMCID: PMCPMC5602489.
  5. National Library of Medicine (US) [Internet]. Genetics Home Reference. Bethesda (MD): The Library. [cited 2020 May 12]. Available from: https://ghr.nlm.nih.gov/
  6. Schmid M, McGowan-Jordan J, Simons A. An International system for human cytogenomic nomenclature (ISCN 2016). Cytogenetic and Genome Research. 2016;149:1-2. doi: 10.1159/isbn.978-3-318-05979-3.
  7. Miclea D, Peca L, Cuzmici Z, Pop IV. Genetic testing in patients with global developmental delay / intellectual disabilities. A review. Clujul Med. 2015;88:288-92. doi: 10.15386/cjmed-461. PubMed PMID: 26609258; PubMed Central PMCID: PMCPMC4632884.
  8. Wang JC, Mahon LW, Ross LP, Anguiano A, Owen R, Boyar FZ. Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis. Mol Cytogenet. 2016;9:82. doi: 10.1186/s13039-016-0291-3. PubMed PMID: 27891178; PubMed Central PMCID: PMCPMC5111223.
  9. Mitsui N, Shimizu K, Nishimoto H, Mochizuki H, Iida M, Ohashi H. Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly. Congenit Anom (Kyoto). 2013;53:49-53. doi: 10.1111/j.1741-4520.2012.00362.x. PubMed PMID: 23480358.
  10. Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, et al. Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. Am J Med Genet A. 2012;158A:2266-71. doi: 10.1002/ajmg.a.35489. PubMed PMID: 22821627.
  11. Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, et al. Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits. Eur J Med Genet. 2016;59:20-5. doi: 10.1016/j.ejmg.2015.11.011. PubMed PMID: 26656975.
  12. Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136:402-12. doi: 10.1016/j.jaci.2014.12.1945. PubMed PMID: 25724123; PubMed Central PMCID: PMCPMC4530066.
  13. Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012;44:445-9. doi: 10.1038/ng.1105. PubMed PMID: 22366787.
  14. Choi A, Oh JY, Kim M, Jang W, Jang DH. Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3. Ann Rehabil Med. 2017;41:881-6. doi: 10.5535/arm.2017.41.5.881. PubMed PMID: 29201829; PubMed Central PMCID: PMCPMC5698677.
  15. Hou QF, Wu D, Chu Y, Liao SX. Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis. Taiwan J Obstet Gynecol. 2016;55:867-70. doi: 10.1016/j.tjog.2016.11.001. PubMed PMID: 28040136.
  16. Sirisena ND, Wijetunge UK, de Silva R, Dissanayake VH. Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations. Case Rep Genet. 2013;2013:785830. doi: 10.1155/2013/785830. PubMed PMID: 23984121; PubMed Central PMCID: PMCPMC3741698.
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