Evidence map›Paper›PMID 27271878›Full record

ArticleClinical and translational medicine2016

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.

Wai-Kwan Siu, Ching-Wan Lam, Chloe Miu Mak, Elizabeth Tak-Kwong Lau, Mary Hoi-Yin Tang, Wing-Fai Tang, Rachel Sui-Man Poon-Mak, Chi-Chiu Lee, Se-Fong Hung, Patrick Wing-Leung Leung and 5 more

Open access · goldAbstract read
In one paragraph

Article in Clinical and translational medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.4field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 6 institutions in 2 countries.

Wai-Kwan SiuDepartment of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China.ORCID http://orcid.org/0000-0002-5644-3615
Ching-Wan LamDepartment of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China. ching-wanlam@pathology.hku.hk.
Chloe Miu MakKowloon West Cluster Laboratory Genetics Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Elizabeth Tak-Kwong LauDepartment of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Mary Hoi-Yin TangDepartment of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Wing-Fai TangDepartment of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Rachel Sui-Man Poon-MakDepartment of Clinical Psychology, Kwai Chung Hospital, Hong Kong, China.
Chi-Chiu LeeDepartment of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
Se-Fong HungDepartment of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
Patrick Wing-Leung LeungDepartment of Psychology, The Chinese University of Hong Kong, Hong Kong, China.
Karen Ling KwongDepartment of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China.
Eric Kin-Cheong YauDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Grace Sui-Fun NgDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Nai-Chung FongDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Kwok-Yin ChanDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Kwai Chung Hospital · CNQueen Mary Hospital · CNHospital Authority · HKChinese University of Hong Kong · HKTuen Mun Hospital · CNUniversity of Hong Kong · HK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hybridization (CGH) for ASD patients is determined in a cohort of Chinese patients in Hong Kong.

methodsA combined adult and paediatric cohort of 68 Chinese ASD patients (41 patients in adult group and 27 patients in paediatric group). The genomic DNA extracted from blood samples were analysed by array CGH using NimbleGen CGX-135K oligonucleotide array.

resultsWe identified 15 CNV and eight of them were clinically significant. The overall diagnostic yield was 11.8 %. Five clinically significant CNV were detected in the adult group and three were in the paediatric group, providing diagnostic yields of 12.2 and 11.1 % respectively. The most frequently detected CNV was 16p13.11 duplications which were present in 4 patients (5.9 % of the cohort).

conclusionsIn this study, a satisfactory diagnostic yield of array CGH was demonstrated in a Chinese ASD patient cohort which supported the clinical usefulness of array CGH as the first line testing of ASD in Hong Kong.

Indexed as

ARRAY CGHAutism spectrum disorderChinese

Identifiers

PMID27271878
PMCPMC4896892
OpenAlexW2397524316

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.