Akalin H, Sahin IO, Paskal SA, Tan B, Yalcinkaya E, Demir M, et al. Evaluation of chromosomal abnormalities in the postnatal cohort: a single‐center study on 14,242 patients. J Clin Lab Anal. 2024;38(1–2):e24997. https://doi.org/10.1002/jcla.24997.
Article CAS PubMed Google Scholar
Attar AE, Bahashwan AA, Bakhsh AD, Moshrif YM. The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: a retrospective study from Saudi Arabia. Intract Rare Dis Res. 2021;10:81–7. https://doi.org/10.5582/irdr.2021.01016.
Balkan M, Akbaş H, Işi H, Oral D, Türkyılmaz A, Kalkanli Ş, et al. Cytogenetic analysis of 4,216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res. 2010;9:1094–103. https://doi.org/10.4238/vol9-2gmr827.
Article CAS PubMed Google Scholar
Barch MJ, Knutsen T, Spurbeck JL. The AGT cytogenetics laboratory manual. 3rd ed. Philadelphia: Lippincott-Raven; 1997.
Belkady B, Elkhattabi L. Chromosomal abnormalities in patients with intellectual disability: a 21-year retrospective study. Hum Hered. 2018;83:274–82.
Article CAS PubMed Google Scholar
Bergbaum A, Mackie Ogilvie C. Autism and chromosome abnormalities – a review. Clin Anat. 2016;29:620–7. https://doi.org/10.1002/ca.22719.
Bhasin MK, Singh IP, Bhasin M. Human population genetics in India. Int J Hum Genet. 2010;10:1–28.
Bhatt RK, Agarwal M. Chromosomal abnormalities in couples with repeated fetal loss: an Indian retrospective study. Indian J Hum Genet. 2019;19:415–22.
Cherian AG, Kamath V, Srivastava V, Danda S, Sebastian T, Madhai Beck M. Spectrum of chromosomal abnormalities detected by conventional cytogenetic analysis following invasive prenatal testing of fetuses with abnormal ultrasound scans. J Obstet Gynaecol India. 2022;72:209–16. https://doi.org/10.1007/s13224-022-01626-x.
Article CAS PubMed PubMed Central Google Scholar
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063–71.
Article CAS PubMed PubMed Central Google Scholar
Demirhan O, Tunç E. Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients. Chromosoma. 2022;131:225–37. https://doi.org/10.1007/s00412-022-00782-3.
Article CAS PubMed Google Scholar
Dong Z, Zhang J, Hu P, Chen H, Xu J, Tian Q, et al. Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach. Genet Med. 2016;18:940–8. https://doi.org/10.1038/gim.2015.200.
Article CAS PubMed Google Scholar
Dutta UR, Bhattacherjee A, Bahal A, Posanapally LP, Lone KA, Bathula S, et al. Cytogenomic characterization of a novel de novo balanced reciprocal translocation t(1;12) by genome sequencing leading to fusion gene formation of EYA3/EFCAB4b. Mol Syndromol. 2022;13:370–80. https://doi.org/10.1159/000522011.
Article CAS PubMed PubMed Central Google Scholar
Dutta UR, Ponnala R, Pidugu VK, Dalal AB. Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India. Arch Iran Med. 2013;16:267–70.
Dutta UR, Rajitha P, Pidugu VK, Dalal AB. Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. J Assist Reprod Genet. 2011;28(2):145–9. https://doi.org/10.1007/s10815-010-9492-6.
Dutta UR, Rao SN, Pidugu VK, V SV, Bhattacherjee A, Bhowmik AD, et al. Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics. 2019;111:1108–14. https://doi.org/10.1016/j.ygeno.2018.07.005.
Article CAS PubMed Google Scholar
Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counselling. 4th ed. Oxford: Oxford University Press; 2011.
Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies. Am J Hum Genet. 1977;29:72–9.
Hsu LYF, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major racial groups: a large prenatal study. Am J Med Genet. 1987;26:95–101. https://doi.org/10.1002/ajmg.1320260114.
Article CAS PubMed Google Scholar
Hughes IA. Consensus statement on management of intersex disorders. Pediatrics. 2006;118:e488–500.
Liehr T. Review of conventional cytogenetics: karyotyping, FISH, and detection of balanced rearrangements. In: Methods in molecular biology, vol. 1541. Humana Press; 2017. p. 1–17.
Lilue J, Doran AG, Fiddes IT, Abrudan M, Armstrong J, Bennett R, et al. Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. Nat Genet. 2018;50:1574–83.
Article CAS PubMed PubMed Central Google Scholar
Madan K. Paracentric inversions: a review. Hum Genet. 1995;96:503–15. https://doi.org/10.1007/BF00207367.
Article CAS PubMed Google Scholar
Morris JK. The epidemiology of Down syndrome. BMJ. 2002;325:1135–7.
Mozdarani H, Meybodi AM, Zari-Moradi S. Association of pericentric inversion of chromosome 9 and infertility. Indian J Hum Genet. 2007;13:26–9. https://doi.org/10.4103/0971-6866.32041.
Article CAS PubMed PubMed Central Google Scholar
Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87(1):81–3. https://doi.org/10.1007/BF00215096.
Article CAS PubMed Google Scholar
Park SJ, Min JY, Kang JS, Yang BG, Hwang SY, Han SH. Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study. Fertil Steril. 2022;117:1015–25.
Article CAS PubMed Google Scholar
Scherer SW, Feuk L. Chromosomal copy number variation. Nat Genet. 2007;39:875–81.
Saha D, Dutta P, Sengupta S, Shahid S, Sengupta M. Deciphering the burden of chromosomal disorders in India, bridging the gap between clinical reality and documented evidence: a systematic review and meta-epidemiological mapping of congenital and acquired abnormalities. Nucleus. 2025;68:525–82. https://doi.org/10.1007/s13237-025-00617-3.
Shaffer LG, Bejjani BA. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res. 2004;115:303–9. https://doi.org/10.1159/000083328.
Shaffer LG, Bejjani BA, Torchia BS, Kirkpatrick SJ, Coppinger J, Ballif BC. The discovery of microdeletions and microduplications in fetuses with ultrasound anomalies: the impact of chromosomal microarray analysis. Am J Obstet Gynecol. 2006;195:45–55. https://doi.org/10.1016/j.ajog.2006.01.073.
Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Chromosomal abnormalities in infertile men from Southern India. J Clin Diagn Res. 2015;9:GC05-GC10.
CAS PubMed PubMed Central Google Scholar
Swaminathan V, Narayanan V, Iqbal S, Murugan S. Clinical utility of chromosomal microarray in developmental delay and intellectual disability: a single-centre experience from India. Indian J Med Res. 2021;153:612–8. https://doi.org/10.4103/ijmr.IJMR_2756_20.
Tibiletti MG, Simoni G, Terzoli GL, Romitti L, Fedele L, Candiani GB. Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. Acta Eur Fertil. 1981;12:245–8.
Verma IC, Babu A. Atlas of genetic diagnosis and counseling. New Delhi: Jaypee Brothers Medical Publishers; 1995.
Comments (0)