Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

Xia, Yu; Huang, Steve S.; Wu, Yueheng; Yang, Yongchao; Chen, Shaoxian; Li, Ping; Zhuang, Jian

doi:10.1002/mgg3.517

Cited by 9 publications

(1 citation statement)

References 22 publications

(29 reference statements)

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“…FISH can be used to identify WS in at-risk relatives of the proband. Testing of parental samples is indicated only if the relative has signs or symptoms of Williams syndrome (26).…”

Section: Diagnosis Establishmentmentioning

confidence: 99%

"The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome"

Leon‐Constantin¹,

Maștaleru²,

Abdulan³

et al. 2020

BPI

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Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder. It occurs in around 1 in 10 000 live births as a result of the de novo deletion on chromosome 7q11.23. Recognition of Williams-Beuren syndrome usually starts with the clinician. Patients with Williams syndrome have a characteristic personality profile being described as overfriendly, social disinhibited. Frequently, patients with Williams syndrome have a socioemotional profile in which we can observe anxieties and abnormal fears. The most common are the generalized anxiety disorder and some specific phobias, that affect 40 to 50% individuals with Williams syndrome, irrespective of age. Other frequently met behaviors described in the literature are the difficulties in sensory modulation / sensory processing, emotional regulation, perseveration or certain phobias. Williams syndrome social phenotypes may open new insights in understanding the genes that regulate the human social behavior, not only for this disease but also for other disorders. Thus, we can think about possible changes in performance and mentality in the general population. Also, Williams-Beuren syndrome patients can present cardiovascular disease (elastin arteriopathy, peripheral 46/Bulletin of Integrative Psychiatry New Series  March 2020  Year XXVI  No. 1 (84) pulmonary stenosis, supravalvular aortic stenosis, hypertension), connective tissue, growth and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism).

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“…FISH can be used to identify WS in at-risk relatives of the proband. Testing of parental samples is indicated only if the relative has signs or symptoms of Williams syndrome (26).…”

Section: Diagnosis Establishmentmentioning

confidence: 99%

"The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome"

Leon‐Constantin¹,

Maștaleru²,

Abdulan³

et al. 2020

BPI

View full text Add to dashboard Cite

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Applications of Microarray-Based Technologies in Identifying Disease-Associated Single Nucleotide Variations

Khurana

Bose

Kumar

2019

Microbial Genomics in Sustainable Agroecosystems

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Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation

et al. 2023

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Supravalvar aortic stenosis (SVAS) is a less common but clinically important form of left ventricular outflow tract obstruction, and commonly associated with Williams syndrome (WS). SVAS outside of WS may also occur sporadically or in a familial form, often with identifiable mutations in the elastin (ELN) gene. While risk of sudden cardiac death in patients with SVAS has been extensively described in the context of WS, less is known about risk in patients with isolated SVAS. We report a case of a nonsyndromic two-year-old boy with evolving manifestations of SVAS who developed sudden cardiac arrest and death during a sedated cardiac magnetic resonance imaging study. A strong family history of SVAS was present and targeted genetic testing identified an ELN gene mutation in the boy’s affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the absence of WS or severe disease. This case also underscores the importance of genetic testing, including targeted panels specifically looking for ELN gene mutations, in all patients with SVAS even in the absence of phenotypic concerns for WS or other genetic syndromes.

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Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

Cited by 9 publications

References 22 publications

"The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome"

"The impact of psychiatric disorders in the evolution of patients with Williams-Beuren Syndrome"

Applications of Microarray-Based Technologies in Identifying Disease-Associated Single Nucleotide Variations

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation

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