Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening <i>RB1</i> copy number variations in Egyptian patients with retinoblastoma

Eid, Ola M.; Zomor, Hosam El; Mohamed, Amal M.; El-Bassyouni, Hala T.; Afifi, Hanan H.; El‐Ayadi, Moatasem; Sadek, Sherin Hassan; Hammad, Saida A.; Salem, Sherine I.; Mahrous, Rana; Fadel, Islam M.; Refaat, Khaled; Afifi, Mahmoud A.; Shelil, Abdallah E; Ziko, Othman A.; Azeem, Amira A. Abdel; Elhaddad, Alaa

doi:10.1080/13816810.2022.2116650

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…The MLPA was applied by Chengdu Precision Medicine Laboratory following the manufacturer’s instructions [ 1 ]. DNA was isolated from foetal cord blood for further detection.…”

Section: Case Descriptionmentioning

confidence: 99%

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Zhang

et al. 2023

BMC Pregnancy Childbirth

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Background The discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis. Case presentation The prenatal ultrasound results of a congenital heart defect (CHD) foetus displayed an apartial endocardial pad defect and permanently dilated coronary sinus and left superior vena cava at 21 weeks of gestation. Cytogenetic analysis, CMA, fluorescent in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) with foetal cord blood samples were used to detect the genetic aetiology. Routine G-binding cytogenetic analysis showed normal karyotypes in both the foetus’ and parents’ blood samples. CMA results demonstrated that there were 53.973-Mb recurrent CNVs at Xp22.33-p11.22, as confirmed by MLPA assay. Conclusions Herein, we described the CNV of six duplications at Xp22.33-p11.22 and the 53.973 Mb duplication CNV that was not found in foetal cord blood samples by conventional cytogenetic methods, and it was confirmed by CMA and MLPA. Our novel findings will provide helpful information for prenatal diagnosis and genetic counselling for foetal CHDs.

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“…The MLPA was applied by Chengdu Precision Medicine Laboratory following the manufacturer’s instructions [ 1 ]. DNA was isolated from foetal cord blood for further detection.…”

Section: Case Descriptionmentioning

confidence: 99%