Evidence map›Paper›PMID 40632144›Full record

SynthesisArchives of gynecology and obstetrics2025

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.

Jianing Li, Rui Wang, Ling Liu, Jun Zhao, Yue Zhao, Fangfang Liu, Mengyao Zhu, Chunyu Feng, Yueshu Zhao

Abstract readMeta-AnalysisSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Archives of gynecology and obstetrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

5 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Neurocognitive and Socio-Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
    Review
  4. Article
  5. Article
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

9 authors.

Jianing LiPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Rui WangNHC Key Laboratory of Birth Defects Prevention, Zhengzhou, 451163, Henan, China.
Ling LiuPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Jun ZhaoNational Research Institute for Family Planning, Beijing, China.
Yue ZhaoNational Research Institute for Family Planning, Beijing, China.
Fangfang LiuPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Mengyao ZhuPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Chunyu FengPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Yueshu ZhaoPrenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. zyswr@163.com.

Funding

Supported by Open Research Fund of National Health Commission Key Laboratory of Birth Defects Prevention NHCKLBDP202406The National Natural Science Foundation of China 62027827
6 · The paper itself

Abstract

backgroundThe clinical manifestations of 22q11.2 deletion syndrome (22q11.2 DS) are highly heterogeneous, and the underlying causes of phenotypic variation remain unclear. This study conducted a systematic meta-analysis to evaluate the impact of the deletion position within the 22q11.2 region on phenotypic variability.

methodsPubMed, Web of Science, Scopus, Embase, and Cochrane Library databases were searched through 25 September 2024. Literature was screened, and data were extracted based on predefined inclusion and exclusion criteria.

resultsA total of 17 articles comprising 4107 subjects were included in this study. Among these, 1296 patients presented with congenital heart malformations, while 220 exhibited psychiatric and behavioral abnormalities. 1. Congenital heart malformations: in the central deletion region, congenital heart malformations were significantly associated with the LCR22B-D deletion [OR (BD/CD): 2.74, 95% CI 1.27-5.92, P = 0.01]. 2. Psychiatric and behavioral abnormalities: psychiatric and behavioral abnormalities were significantly associated with smaller typical deletions. Comparisons between the central deletion region and the classic deletion region confirmed a significant association between mental and behavioral abnormalities and LCR22A-B [OR (AB/BD): 6.26, 95% CI 1.16-33.93, P = 0.03].

conclusionsCongenital heart malformations are strongly associated with the central deletion region, specifically LCR22B-D. In contrast, psychiatric and behavioral abnormalities are more strongly linked to the LCR22A-B region, suggesting that smaller deletions significantly elevate the risk of mental and behavioral abnormalities.

Indexed as

Chromosome DeletionDiGeorge SyndromeHeart Defects, CongenitalFemaleHumansPhenotype22q11.2 deletion syndromeBehavioral and psychiatric abnormalCongenital heart abnormalitiesMeta-analysis

Identifiers

PMID40632144
PMCPMC12414020

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Registered trials

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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.