An Indian diagnostic laboratory case report on mosaic chromosome 18
DOI:
https://doi.org/10.18203/issn.2454-2156.IntJSciRep20210098Keywords:
Karyotyping, Mosaic, Ring chromosome 18, 18q deletionAbstract
Distal 18q deletion syndrome, and ring chromosome 18 are structural abnormalities involving chromosome 18. Distal or terminal deletion event is characterized by deletion of a region from the terminal end of a chromosome, while in ring chromosome, the telomeric ends of both the arms of homologous chromosomes are lost, causing the sticky ends to fuse together to form a ring. Clinical findings vary in each case depending on the type of abnormality, and the region of chromosome affected. This case report focuses on the chromosome 18 abnormality detected in the proband tested with the clinical indication of cleft lip, congenital anomaly, and feeding difficulty. Parental karyotyping to rule out de-novo or abnormality due to inheritance, clinical correlation, genetic counseling and high resolution microarray was recommended.
Metrics
References
Feenstra I, Vissers LELM, Orsel M, van Kessel AG, Brunner HG, Veltman JA, et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007;143A(16):1858-67.
Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, Leach RJ. The spectrum of growth abnormalities in children with 18q deletions. J Clin Endocrinol Metab. 2000;85(12):4450-4.
Caba L, Rusu C, Plăiaşu V, Gug G, Grămescu M, Bujoran C, et al. Ring autosomes: Some unexpected findings. Balkan J Med Genet. 2012;15(2):35-46.
Heydari S, Hassanzadeh F, Nazarbadi MH. Ring chromosome 18: A case report. Int J Mol Cel Med. 2014;3(4):287-89.
Yip MY. Autosomal ring chromosomes in human genetic disorders. Transl Pediatr. 2015;4(2):164-74.
Budisteanu M, Arghir A, Chirieac SM, Tutulan-Cunita A, Lungeanu A. 18q deletion syndrome - A case report. Maedica (Bucur). 2010;5(2):135-8.
Gereltzul E, Baba Y, Suda N, Shiga M, Inoue MS, Tsuji M, et al. Case report of de novo dup(18p)/del(18q) and r(18) mosaicism. J Hum Genet. 2008;53:941-46.
Guilherme RS, Meloni VFA, Kim CA, Pellegrino R, Takeno SS, Spinner NB, et al. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet. 2011;12:171.
Chen CP, Kuo YT, Lin SP, Su YN, Chen YJ, Hsueh RY, et al. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol. 2010;49(3):327-32.
Knijnenburg J, van Haeringen A, Hansson KBM, Lankester A, Smit MJM, Belfroid RDM, et al. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet. 2007;15(5):548-55.
Downloads
Published
How to Cite
Issue
Section
