REFERENCES

1. Smajlagić D, Lavrichenko K, Berland S, et al. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. Eur J Hum Genet. 2021;29:205-15.

2. Kendall KM, Rees E, Escott-Price V, et al. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK biobank subjects. Biol Psychiatry. 2017;82:103-10.

3. Molloy CJ, Quigley C, McNicholas Á, Lisanti L, Gallagher L. A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants. Transl Psychiatry. 2023;13:116.

4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24.

5. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359:1685-99.

6. Huang J, Wu D, Gao Y, et al. Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39:468-73.

7. Coe BP, Witherspoon K, Rosenfeld JA, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063-71.

8. Tropeano M, Ahn JW, Dobson RJ, et al. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One. 2013;8:e61365.

9. Blaseg NA, Robson JO, Patel RA, Asfour F, Pohl JF. Gastrointestinal pathologies in pediatric patients with cystic fibrosis undergoing endoscopy: a single-center retrospective review over 15 years. Cureus. 2024;16:e59018.

10. Wang D, Mai Q, Yang X, et al. Microduplication of 16p11.2 locus potentiates hypertrophic obesity in association with imbalanced triglyceride metabolism in white adipose tissue. Mol Nutr Food Res. 2022;66:e2100241.

11. Rosenfeld JA, Coppinger J, Bejjani BA, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010;2:26-38.

12. Li L, Huang L, Lin S, Luo Y, Fang Q. Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene. Am J Med Genet A. 2017;173:2284-8.

13. Masuno M, Ishii T, Tanaka Y, et al. De novo trisomy 16p11.2-qter: report of an infant. Am J Med Genet. 2000;92:308-10.

14. Su J, Qin Z, Fu H, et al. Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort. Ultrasound Obstet Gynecol. 2022;59:226-33.

15. Jensen M, Tyryshkina A, Pizzo L, et al. Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Genome Med. 2021;13:163.

16. Spineli-Silva S, Bispo LM, Gil-da-Silva-Lopes VL, Vieira TP. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. Eur J Med Genet. 2018;61:262-8.

17. Vyas S, Constantino JN, Baldridge D. 22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy. Cold Spring Harb Mol Case Stud. 2019;5:a004291.

18. Cai M, Lin N, Su L, et al. Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array. Mol Biol Rep. 2020;47:7529-35.

19. Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013;15:478-81.

20. Alston CL, Heidler J, Dibley MG, et al. Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex i deficiency. Am J Hum Genet. 2018;103:592-601.

21. Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2:1-71.

22. Tahata S, Gunderson L, Lanpher B, Morava E. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): case series and review of the literature. Mol Genet Metab. 2019;128:409-14.

23. Lelieveld SH, Reijnders MR, Pfundt R, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci. 2016;19:1194-6.

24. Torti E, Keren B, Palmer EE, et al. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019;21:2036-42.

25. Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433-8.

26. Brault J, Walsh L, Vance GH, Weaver DD. Klinefelter's syndrome with maternal uniparental Disomy X, interstitial Xp22.31 deletion, X-linked Ichthyosis, and severe central nervous system regression. J Pediatr Genet. 2021;10:222-9.

27. Gubb SJA, Brcic L, Underwood JFG, et al. Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank. Hum Mol Genet. 2020;29:2872-81.

28. Went LN, De Groot WP, Sanger R, Tippett P, Gavin J. X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. Ann Hum Genet. 1969;32:333-45.

29. Crane JS, Paller AS. X-linked ichthyosis. Treasure Island: StatPearls, 2025.

30. Zhu Y, Hu L, Cao D, Ou X, Jiang M. Chromosomal microarray analysis of infertile men with azoospermia factor microdeletions. Gene. 2020;735:144389.

31. Vogt PH, Bender U, Deibel B, Kiesewetter F, Zimmer J, Strowitzki T. Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature. Cell Biosci. 2021;11:60.

32. Liu C, Zhao X, Mu C, et al. The association of partial azoospermia factor C deletions and male infertility in Northwestern China. Hum Hered. 2019;84:144-50.

33. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet. 2003;40:18-24.

34. Nassisi M, Mainetti C, Aretti A, et al. Ocular features in Williams-Beuren syndrome: a review of the literature. Curr Opin Ophthalmol. 2023;34:514-21.

35. Thom RP. Psychiatric and behavioral manifestations of Williams syndrome. Curr Opin Psychiatry. 2024;37:65-70.

36. Kozel BA, Barak B, Kim CA, et al. Williams syndrome. Nat Rev Dis Primers. 2021;7:42.

37. Ji X, Pan Q, Wang Y, et al. Prenatal diagnosis of recurrent distal 1q21.1 duplication in three fetuses with ultrasound anomalies. Front Genet. 2018;9:275.

38. Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. Clin Dysmorphol. 2020;29:127-31.

39. Pang H, Yu X, Kim YM, et al. Disorders associated with diverse, recurrent deletions and duplications at 1q21.1. Front Genet. 2020;11:577.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/