Genetic analysis of a child with mos 46, X, psu idic(X)(q21.3)40/45, X3
10.3760/cma.j.cn511374-20230903-00111
- VernacularTitle:mos 46，X，psu idic(X)(q21.3)[40]/45，X[3]患儿1例的遗传学分析
- Author:
Ting YIN
1
;
Fang ZHANG
;
Xinxin TANG
;
Minmin ZHU
;
Anshun ZHENG
;
Qin ZHENG
;
Xiaoxi WANG
;
Leilei WANG
Author Information
1. 连云港市妇幼保健院中心实验室，连云港 222062
- Keywords:
Mosaicism;
Pseudoisodicentric X;
Turner syndrome;
Primordial uterus
- From:
Chinese Journal of Medical Genetics
2024;41(8):977-981
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia.Methods:A 13-year-old child who was admitted to Lianyungang Maternal and Child Health Care Hospital on February 7, 2023 for primary amenorrhoea and occasional abdominal pain was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected. G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. "Pseudodual centromere isochromosome X" and "psu idic(X)" were used as keywords to search the CNKI, Wanfang and PubMed databases, and the search period was set as from January 1, 2002 to June 1, 2023. Relevant literature on the structural abnormality of X chromosome was searched and analyzed retrospectively.Results:The child has a height of 153 cm and weighed 45 kg. She has no obvious facial dysmorphism. Laboratory tests showed that she had higher FSH and luteinizing hormone, and lower E2. Ultrasonography showed that she had small ovaries and rudimentary uterus. She was found to have a karyotype of 46, X, psu idic(X)(q21.3)[40]/mos 45, X[3], whilst both of her parents had a normal karyotype. CNV-seq showed that she had a 63.27 Mb deletion in Xq21.32q28 and a 91.59 Mb duplication in Xp22.33q21.32 (mosaicism rate = 74%). A total of 11 relevant literature were retrieved. Clinical phenotypes of patients with similar structural chromosomal abnormalities were diverse, which was closely related to the mosaicism rate of the 45, X karyotype and the location of the breaking point.Conclusion:46, X, psu idic(X)(q21.3)/45, X probably underlay the dysplasia of uterus and ovary and sex hormone abnormalities in this child, while her height was spared. Deletion of Xq21.32q28 is a key factor leading to Turner syndrome-like phenotype such as rudimentary uterus and ovarian dysplasia.
