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Conference Paper: 22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis

Title22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis
Authors
Issue Date2013
PublisherHong Kong Paediatric Society. The Journal's web site is located at http://www.hkjpaed.org/
Citation
The 2013 Joint Annual Scientific Meeting of The Hong Kong Paediatric Society and Hong Kong Paediatric Nurses Association, Hong Kong, 8 September 2013. In Hong Kong Journal of Paediatrics (New series), 2013, v. 18 n. 4, p. 250-251 How to Cite?
Abstract22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Underdiagnosis in adults is common and recognition of facial dysmorphic features can be affected by patient age and ethnicity. This study aims to determine the prevalence of undiagnosed 22q11.2DS in adult Chinese patients with conotruncal anomalies and to delineate their facial dysmorphic features and extra-cardiac manifestations. We recruited consecutively 156 patients with conotruncal anomalies in an adult congenital heart disease (CHD) clinic in Hong Kong and screened for 22q11.2DS using fluorescence- PCR and fluorescence in-situ hybridisation. Assessment for dysmorphic features was performed by a cardiologist at initial screening and then by a clinical geneticist upon result disclosure. Clinical photographs were taken with consent and childhood photographs were collected. Eighteen patients (11.5%) were diagnosed with 22q11.2DS, translating into 1 previously unrecognised diagnosis of 22q11.2DS in every 10 adult patients with conotruncal anomalies. While dysmorphic features were detected by our clinical geneticist in all patients, only two-thirds were considered dysmorphic by our cardiologist upon first assessment. Evolution of facial dysmorphic features was noted with age. Extra-cardiac manifestations included velopharyngeal incompetence or cleft palate (44%), hypocalcaemia (39%), neurodevelopmental anomalies (33%), thrombocytopenia (28%), psychiatric disorders (17%), epilepsy (17%) and hearing loss (17%). We conclude that under-diagnosis of 22q11.2DS in Chinese adults with conotruncal defects is common and facial dysmorphic features may not be reliably recognised in the setting of adult CHD clinic. In order to avoid missing the diagnosis, molecular testing of 22q11.2DS should be offered to patients with conotruncal defects regardless of the facial features.
DescriptionPoster Presentation (Doctor’s Session)
Persistent Identifierhttp://hdl.handle.net/10722/190133
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123

 

DC FieldValueLanguage
dc.contributor.authorLiu, APYen_US
dc.contributor.authorChow, PCen_US
dc.contributor.authorLee, PPWen_US
dc.contributor.authorMok, TKGen_US
dc.contributor.authorTang, WFen_US
dc.contributor.authorLau, ETKen_US
dc.contributor.authorLam, STSen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorKan, SYAen_US
dc.contributor.authorChau, AKTen_US
dc.contributor.authorCheung, YFen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorChung, BHYen_US
dc.date.accessioned2013-09-17T15:12:10Z-
dc.date.available2013-09-17T15:12:10Z-
dc.date.issued2013en_US
dc.identifier.citationThe 2013 Joint Annual Scientific Meeting of The Hong Kong Paediatric Society and Hong Kong Paediatric Nurses Association, Hong Kong, 8 September 2013. In Hong Kong Journal of Paediatrics (New series), 2013, v. 18 n. 4, p. 250-251en_US
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/190133-
dc.descriptionPoster Presentation (Doctor’s Session)-
dc.description.abstract22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Underdiagnosis in adults is common and recognition of facial dysmorphic features can be affected by patient age and ethnicity. This study aims to determine the prevalence of undiagnosed 22q11.2DS in adult Chinese patients with conotruncal anomalies and to delineate their facial dysmorphic features and extra-cardiac manifestations. We recruited consecutively 156 patients with conotruncal anomalies in an adult congenital heart disease (CHD) clinic in Hong Kong and screened for 22q11.2DS using fluorescence- PCR and fluorescence in-situ hybridisation. Assessment for dysmorphic features was performed by a cardiologist at initial screening and then by a clinical geneticist upon result disclosure. Clinical photographs were taken with consent and childhood photographs were collected. Eighteen patients (11.5%) were diagnosed with 22q11.2DS, translating into 1 previously unrecognised diagnosis of 22q11.2DS in every 10 adult patients with conotruncal anomalies. While dysmorphic features were detected by our clinical geneticist in all patients, only two-thirds were considered dysmorphic by our cardiologist upon first assessment. Evolution of facial dysmorphic features was noted with age. Extra-cardiac manifestations included velopharyngeal incompetence or cleft palate (44%), hypocalcaemia (39%), neurodevelopmental anomalies (33%), thrombocytopenia (28%), psychiatric disorders (17%), epilepsy (17%) and hearing loss (17%). We conclude that under-diagnosis of 22q11.2DS in Chinese adults with conotruncal defects is common and facial dysmorphic features may not be reliably recognised in the setting of adult CHD clinic. In order to avoid missing the diagnosis, molecular testing of 22q11.2DS should be offered to patients with conotruncal defects regardless of the facial features.-
dc.languageengen_US
dc.publisherHong Kong Paediatric Society. The Journal's web site is located at http://www.hkjpaed.org/-
dc.relation.ispartofHong Kong Journal of Paediatrics (New series)en_US
dc.title22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosisen_US
dc.typeConference_Paperen_US
dc.identifier.emailLiu, APY: apyliu@hku.hken_US
dc.identifier.emailLee, PPW: ppwlee@hku.hken_US
dc.identifier.emailMok, TKG: gtkmok@hku.hken_US
dc.identifier.emailTang, WF: h9705682@graduate.hku.hken_US
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hken_US
dc.identifier.emailKan, SYA: kansya@hku.hken_US
dc.identifier.emailChau, AKT: aktchau@hku.hken_US
dc.identifier.emailCheung, YF: xfcheung@hku.hken_US
dc.identifier.emailLau, YL: lauylung@hku.hken_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityLiu, APY=rp01357en_US
dc.identifier.authorityLee, PPW=rp00462en_US
dc.identifier.authorityCheung, YF=rp00382en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.identifier.hkuros225106en_US
dc.identifier.hkuros225045-
dc.identifier.volume18-
dc.identifier.issue4-
dc.identifier.spage250en_US
dc.identifier.epage251en_US
dc.publisher.placeHong Kong-

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