Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome

Yang, Wenxu; Pan, Hong; Wang, Songtao; Li, Lin; Wu, Haiyan; Yu, Qi

doi:10.1016/j.tjog.2015.12.006

Cited by 3 publications

(2 citation statements)

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“…A screening strategy is required for MLPA analysis of WHS, that is, using SALSA P070 and P036 for subtelomeric rearrangements first, and SALSA P245 or other further investigated kits second. [ 20 ] Array CGH is advanced in detecting the deletion genes and corresponding breakpoints in WHSCR, which is not only a complementary method for MLPA, but also helpful for precise medical therapy in the future. Therefore, the combined use of MLPA and array CGH facilitates the evaluation of WHS with greater accuracy than conventional cytogenetic methods.…”

Section: Discussionmentioning

confidence: 99%

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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

Yang

Pan

et al. 2016

Chinese Medical Journal

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Background:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH).Methods:Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH.Results:All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3.Conclusions:The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.

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Section: Discussionmentioning

confidence: 99%

“…[ 11 ] It also highlighted the importance of accurate diagnosis of WHS although the recurrence of WHS is low. [ 20 ]…”

Section: Discussionmentioning

confidence: 99%

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

Yang

Pan

et al. 2016

Chinese Medical Journal

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Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Chen

Chern

et al. 2017

Taiwanese Journal of Obstetrics and Gynecology

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Wolf–Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly

Chen¹,

Wang²,

Chern³

et al. 2020

Taiwanese Journal of Obstetrics and Gynecology

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Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome

Abstract: The combined use of MLPA and aCGH is an effective way to diagnose recurrent WHS. Although WHS is typically caused by a de novo deletion, prenatal diagnosis and genetic counseling are necessary in the next pregnancy in families that have suffered such cases.

Cited by 3 publications

References 13 publications

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Wolf–Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly

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