Evidence map›Paper›PMID 38031145›Full record

ArticleMolecular cytogenetics2023

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.

Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu, Jesse Li-Ling

Open access · goldAbstract read
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In one paragraph

Article in Molecular cytogenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Shengfang Qin *Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China. qinshengfang@126.com.
Jiuzhi Zeng *West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Jin WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Mengling YeDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Qin DengDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Xueyan WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Zhuo ZhangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Dangying YiDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Yang WuDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
Jesse Li-LingWest China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. jliling@scu.edu.cn.
Maternal and Child Health Hospital of Sichuan Province · CNSichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPartial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome.

methodsThe peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, Chromosomal microarray analysis (CMA), Optical genome mapping, short tandem repeat (STR) analysis for Determination of parental origin, and X chromosome inactivation (XCI) analysis.

resultsWe have identified a de novo Xq23-Xq26.3 duplication in an adult female featuring extremely short stature and mild mental deficiency. Chromosome analysis detected a duplication on Xq23-q26.3 with a size of approximately 20 Mb. The duplication region has encompassed a number of genes, among which ARHGEF6, PHF6, HPRT1 and SLC9A6 are associated with X-linked mental retardation. Further analysis suggested that the duplication has derived from her father, was of the inversion duplication type and involved various degrees of skewed X chromosome inactivation.

conclusionCorrelation with her phenotypes might indicate new mechanisms by which the X chromosome may lead to short stature and mental retardation. Our findings thereby may shed more light on the phenotypic implication of functional disomy of X-chromosome genes.

Indexed as

Intellectual disabilityShort statureXq23-q26.3 duplication

Identifiers

PMID38031145
PMCPMC10685508
OpenAlexW4389143928

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