A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
Grigory S. Vasilyev,
Tatiana I. Meshcheryakova,
Elena N. Lukash,
Svetlana S. Zhylina,
Ilya V. Kanivets,
Alexander N. Petrin https://doi.org/10.15690/vsp.v15i3.1568
Abstract
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in the father being the carrier. Clinical manifestations in the sick child include delay in physical, psychomotor and speech development, epilepsy, skeletal abnormalities, cleft palate, and multiple development microanomalies. The chromosomal microarray analysis was applied for a precise cytogenetic diagnosis.
About the Authors
Grigory S. Vasilyev
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
Tatiana I. Meshcheryakova
Scientific and Practical Centre of Specialized Medical Care for Children n.a. V.F. Voyno-Yasenetsky, Moscow, Russian Federation
Russian Federation
Russian Federation
Elena N. Lukash
Scientific and Practical Centre of Specialized Medical Care for Children n.a. V.F. Voyno-Yasenetsky, Moscow, Russian Federation
Russian Federation
Russian Federation
Svetlana S. Zhylina
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Scientific and Practical Centre of Specialized Medical Care for Children n.a. V.F. Voyno-Yasenetsky, Moscow, Russian Federation
Russian Federation
Russian Federation
Ilya V. Kanivets
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russian Federation
Russian Federation
Russian Federation
Alexander N. Petrin
Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russian Federation
Russian Federation
Russian Federation
References
1. Ворсанова С.Г., Юров Ю.Б., Чернышов В.Н. Медицинская цитогенетика. — М.: Медпрактика-М; 2006. 300 с. [Vorsanova SG, Yurov YuB, Chernyshov VN. Meditsinskaya tsitogenetika. Moscow: Medpraktika-M; 2006. 300 p. (In Russ).]
2. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000;34(1):297–329. doi: 10.1146/annurev.genet.34.1.297.
3. Гнетецкая В.А., Гузеев Г.Г., Канивец И.В., и др. Хромосомный микроматричный анализ как инструмент в практике современного генетического консультирования. Детская больница. — 2013. — №4(54). — С. 55–59. [Gnetetskaya VA, Guzeyev GG, Kanivets IV, et al. Chromosomal microarray analysis as a tool of modern genetic counselling. Detskaia bol’nitsa. 2013;(4(54)):55–59.(In Russ).]
4. Рытенкова О.И., Оленникова Р.В., Волков А.Н., и др. Клинико- генетическое описание и анализ случая частичной моносомии 7q в сочетании с аберрацией хромосомы 16. Медицина в Кузбассе. — 2014. — №3. — С. 60–63. [Ritenkova OI, Olennikova RV, Volkov AN, et al. Clinical and genetic description and analysis of case partial monosomy 7q in combination with aberration of chromosome 16. Meditsina v Kuzbasse. 2014;(3):60–63. (In Russ).]
5. Vorsanova SG, Iourov IY, Voinova-Ulas VY, et al. Partial monosomy 7q34qter and 21pterq22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Mol Cytogenetics. 2008;1(1):13. doi: 10.1186/1755-8166-1-13.
6. National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Chromosome Map [cited 2016 Jun 2]. Available from: NCBI database: http://www.ncbi.nlm.nih.gov/ books/NBK22266/.
7. Korenberg JR, Kalousek DK, Anneren G, et al. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum Genet. 1991;87(2):112–118. doi: 10.1007/ bf00204163.
8. Roland B, Cox DM, Hoar DI, et al. A familial interstitial deletion of the long arm of chromosome 21. Clin Genet. 1990;37(6):423–428. doi: 10.1111/j.1399-0004.1990.tb03525.x.
9. Tinkel-Vernon H, Finkemagel S, Desposito F, et al. Patient with a deletion of chromosome 21q and minimal phenotype. Am J Med Genet A. 2003;120A(1):142–143. doi: 10.1002/ ajmg.a.10210.
10. Wakui K, Toyoda A, Kubota T, et al. Familial 14-Mb deletion at 21q11.2-q21.3 with variable phenotypic expression. J Hum Genet. 2002;47:511–516. doi: 10.1007/s100380200076.
11. Su PH, Chen JY, Chen SJ, Lin LL. Clinical manifestations of chromosome 21 interstitial deletion: Report of four cases. Acta Paediatr Taiwan. 2006;47(6):303–308.
12. Диагностическая программа «СинДиаг», версия 4.2 [CD-ROM]. Белоруссия, Минск; 2002.
13. Genome Research Limited [Internet]. DECIPHER v9.8 Released [cited 2016 Jun 2]. Available from: https://decipher.sanger.ac.uk/.
14. Monfort S, Blesa D, Roselló M, et al. Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci. Am J Med Genet A. 2007;143A(4):382–384. doi: 10.1002/ajmg.a.31608.
15. Yoon JG, Shin S, Jung JW, et al. An 18.3-Mb duplication on chromosome 14q with multiple cardiac anomalies and clubfoot was identified by microarray analysis. Ann Lab Med. 2016;36(2):194– 196. doi: 10.3343/alm.2016.36.2.194.
16. Kotzot D. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Ann Genet. 2004;47(3):251–260. doi: 10.1016/j.anngen.2004.03.006.
17. NCBI [Internet]. NCBI Map Viewer. Annotation Release 105 (Previous) [cited 2016 Jun 2]. Available from: http://www.ncbi.nlm.nih.gov/projects/mapview/maps.cgi? TAXID=9606&CHR=14&MAPS=ideogr%2Ccntg-r%2Cregions%2CugHs%2Cgenes&BUILD=previous&QUERY=14q11.2- q21.1&BEG=30%2C590K&END=48%2C730K&oview=default.
18. omim.org [Internet]. OMIM. FORKHEAD BOX G1; FOXG1 [updated 2012 Sep 6; cited 2016 Jun 2]. Available from: http://www.omim.org/entry/164874?search=foxg1%20gene& highlight=foxg1%20gene#10.
19. Brunetti-Pierri N, Paciorkowski AR, Ciccone R, et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011;19(1):102–107. doi: 10.1038/ejhg.2010.142.
20. Yeung A, Bruno D, Scheffer IE, et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet. 2009;52(6):440–442. doi: 10.1016/j.ejmg.2009.09.004.
21. Tohyama J, Yamamoto T, Hosoki K, et al. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet A. 2011;155(10):2584–2588. doi: 10.1002/ajmg.a.34224.
Review
For citations:
Vasilyev G.S., Meshcheryakova T.I., Lukash E.N., Zhylina S.S., Kanivets I.V., Petrin A.N. A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3). Current Pediatrics. 2016;15(3):301-306. (In Russ.) https://doi.org/10.15690/vsp.v15i3.1568
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