An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22

1. Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3(1):4.

2. Sebold C, Soileau B, Heard P, et al. Whole arm deletions of 18p: medical and developmental effects. Am

J Med Genet A. 2015;167A(2):313–323.

3. Xu L-j, Wu L-x, Yuan Q, Lv Z-g, Jiang X-y. A case of 18p deletion syndrome after blepharoplasty. Int

Med Case Rep J. 2017;10:15–18.

4. Brenk CH, Prott E-C, Trost D, et al. Towards mapping phenotypical traits in 18p− syndrome by array-based

comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007;15(1):35–44.

5. Goyal M, Jain M, Singhal S, Nandimath K. 18p deletion syndrome: Case report with clinical consideration

and management. Contemp Clin Dent. 2017;8(4):632–636.

6. Kasasbeh FA, Shawabkeh MM, Hawamdeh AA. Deletion of 18p syndrome. Lab Med. 2011;42(7):436–438.

7. Tekeli H, Kendirli MT, Şenol MG, et al. A case with 18p deletion and dystonia and review of the literature.

Neurol Asia. 2015;20(3):287–290.

8. Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: case report. BMC Med Genet.

790

Thanh Nha Uyen Le et al

2006;7(1):60.

9. Hasi-Zogaj M, Sebold C, Heard P, et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet.

2015;169(3):251–264.

10. Lurie I, Lazjuk G. Partial monosomies 18. Humangenetik. 1972;15(3):203–222.

11. Yakut S, Simsek M, Pestereli H, Baumer A, Luleci G, Schinzel A. Del (18p) syndrome with increased

nuchal translucency revealed in prenatal diagnosis. Genet Couns. 2011;22(3):317–319.

12. Yi Z, Yingjun X, Yongzhen C, Liangying Z, Meijiao S, Baojiang C. Prenatal diagnosis of pure partial

monosomy 18p associated with holoprosencephaly and congenital heart defects. Gene. 2014;533(2):565–569.

13. Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with

18p deletion: a genotype–phenotype correlation. Am J Med Genet A. 2006;140(11):1164–1171.

14. Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions:

evidence for a breakpoint cluster. Genet Med. 2002;4(1):15–19.

15. Myers KA, Warman Chardon J, Huang L, Boycott KM. Deletion of AFG3L2 associated with spinocerebellar

ataxia type 28 in the context of multiple genomic anomalies. Am J Med Genet A. 2014;164A(12):3209–3212.

16. Sun H, Wan N, Wang X, Chang L, Cheng D. Genotype-phenotype analysis, neuropsychological assessment, and growth hormone response in a patient with 18p deletion syndrome. Cytogenet Genome Res.

2018;154(2):71–78.

17. Verrotti A, Palka C, Prezioso G, et al. Deletion 18p11. 32p11. 31 in a child with global developmental

delay and atypical, drug-resistant absence seizures. Cytogenet Genome Res. 2015;146(2):115–119.

18. Moftah R, Marzouk S, El-Kaffash D, et al. QF-PCR as a molecular-based method for autosomal aneuploidies

detection. ARSci. 2013;1(3):21–28.

19. Inkster A, Thomas MA, Gamache NS, et al. A Challenging Prenatal QF-PCR Rapid Aneuploidy Test

Result Caused by a Maternally Inherited Triplication within Chromosome Xq26. 2. Cytogenet Genome Res.

2018;156(1):5–8.

20. Badenas C, Rodríguez-Revenga L, Morales C, et al. Assessment of QF-PCR as the first approach in prenatal

diagnosis. J Mol Diagn. 2010;12(6):828–834.

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