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更新于：2025-01-23

Chromosome 18 Deletion Syndrome

18号染色体缺失综合征

更新于：2025-01-23

基本信息

别名

18Q Syndrome、18q deletion syndrome、18q syndrome

+ [31]

简介

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.

关联

项与 18号染色体缺失综合征相关的临床试验

NCT00134420

/ Completed临床3期IIT

Growth Hormone Trial for Children With 18q- and Abnormal Growth

We, the investigators at the University of Texas Health Science Center at San Antonio, want to learn if height and IQ (intelligence quotient) scores are improved by growth hormone (GH) treatment in children with chromosome 18 deletions and abnormal growth. Data from a previous study showed that growth hormone improved height in all children with 18q- and growth hormone deficiency. In addition, most of the study participants on growth hormone treatment showed an increase in IQ scores.

开始日期2001-02-01

申办/合作机构

University of Texas Health Science Center At San Antonio

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100 项与 18号染色体缺失综合征相关的临床结果

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100 项与 18号染色体缺失综合征相关的转化医学

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0 项与 18号染色体缺失综合征相关的专利（医药）

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196

项与 18号染色体缺失综合征相关的文献（医药）

2024-10-10·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review].

Review

作者: Wang, Zhiwei ; Gu, Qingqing ; Wang, Xin ; Zhang, Jinglu ; Tan, Juan ; Yin, Ting ; Cui, Huimin ; Zhang, Fang

OBJECTIVETo explore the genetic characteristics of a child with 18q terminal deletion syndrome.METHODSClinical data of a child presented at the Lianyungang Maternal and Child Health Care Hospital on July 20, 2023 was collected. Peripheral blood sample from the child was subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). Relevant literature was searched from CNKI, WanFang and PubMed databases over the past decade (from November 1, 2013 to November 1, 2023) using keywords including "18q-syndrome", "18q deletion syndrome" and "18q terminal deletion". This study was approved by the Lianyungang Maternal and Child Health Care Hospital (Ethics No. LYG-MER2021017).RESULTSThe child, a 4-year-and-6-month-old female, had manifested short stature, intellectual disability, distinctive facial features, aortic regurgitation, auditory canal atresia, and white matter lesions. She was found to have a karyotype of 46,XX,del(18)(q21), whilst the result of CMA was arr[GRCh37]18q21.33q23(60065821_77317445)×1. Both of her parents were found to have a normal karyotype. Literature review has retrieved 7 reports which involved 11 cases with a terminal 18q23 deletion. The phenotypes of cardiac abnormalities have been diverse, with pulmonary stenosis, atrial septal defect and ventricular septal defect being most common.CONCLUSIONThe 18q terminal deletion probably underlay the multiple congenital anomalies and mental retardation in this child.

2024-10-01·Journal of Clinical Immunology

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Article

作者: Kobae, Hidehiko ; Okamoto, Yasuhiro ; Kamuro, Kazuhiro ; Noma, Kosuke ; Tomomasa, Dan ; Hashiguchi, Sho ; Akaike, Harumi ; Nishikawa, Takuro ; Kanegane, Hirokazu ; Nagao, Toshikage ; Shirai, Tsuyoshi ; Ishikawa, Shuji ; Okada, Satoshi

AbstractPatients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q deletion syndrome who presented with late-onset combined immune deficiency (LOCID), which has not been previously reported. Patient 1 was a 29-year-old male with 18q deletion syndrome, who was being managed for severe motor and intellectual disabilities at the Yamabiko Medical Welfare Center for 26 years. Although the patient had few infections, he developed Pneumocystis pneumonia at the age of 28. Patient 2, a 48-year-old female with intellectual disability and congenital malformations, was referred to Tokyo Medical and Dental University Hospital with abnormal bilateral lung shadows detected on her chest radiography. Computed tomography showed multiple lymphadenopathies and pneumonia. A lymph node biopsy of the inguinal region revealed granulomatous lymphadenitis, and a chromosomal examination revealed 18q deletion. Array-based genomic hybridization analysis revealed deletion at 18q21.32-q22.3 for patient 1 and at 18q21.33-qter for patient 2. Immune status work-up of the two patients revealed panhypogammaglobulinemia, decreased number of memory B cells and naïve CD4+ and/or CD8+ cells, reduced response on the carboxyfluorescein diacetate succinimidyl ester T-cell division test, and low levels of T-cell receptor recombination excision circles and Ig κ-deleting recombination excision circles. Consequently, both patients were diagnosed with LOCID. Although patients with 18q deletion syndrome generally experience humoral immunodeficiency, the disease can be further complicated by cell-mediated immunodeficiency, causing combined immunodeficiency. Therefore, patients with 18q deletion syndrome should be regularly tested for cellular/humoral immunocompetence.

2024-10-01·American Journal of Neuroradiology

Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities

Article

作者: Malik, Prateek ; Blaser, Susan ; Shroff, Manohar ; Krishnan, Pradeep ; Yoon, Grace ; Branson, Helen

BACKGROUND AND PURPOSEThe abnormalities of the long arm of chromosome 18 (18q) constitute a complex spectrum. We aimed to systematically analyze their MR imaging features. We hypothesized that there would be variable but recognizable white matter and structural patterns in this cohort.MATERIALS AND METHODSIn this retrospective cohort study, we included pediatric patients with a proved abnormality of 18q between 2000-2022. An age- and sex-matched control cohort was also constructed.RESULTSThirty-six cases, median MR imaging age 19.6 months (4.3-59.3), satisfied our inclusion criteria. Most were female (25, 69%, F:M ratio 2.2:1). Fifty MR imaging studies were analyzed, and 35 (70%) had delayed myelination. Two independent readers scored brain myelination with excellent interrater reliability. Three recognizable evolving MR imaging patterns with distinct age distributions and improving myelination scores were identified: Pelizaeus-Merzbacher disease-like (9.9 months, 37), intermediate (22 months, 48), and washed-out pattern (113.6 months, 53). Etiologically, MRIs were analyzed across 3 subgroups: 18q deletion (34, 69%), trisomy 18 (10, 21%), and ring chromosome 18 (5, 10%). Ring chromosome 18 had the highest myelination lag (27, P = .005) and multifocal white matter changes (P = .001). Trisomy 18 had smaller pons and cerebellar dimensions (anteposterior diameter pons, P = .002; corpus callosum vermis, P < .001; and transverse cerebellar diameter, P = .04).CONCLUSIONSIn this cohort of 18q chromosomal abnormalities, MR imaging revealed recognizable patterns correlating with improving brain myelination. Imaging findings appear to be on a continuum with more severe white matter abnormalities in ring chromosome 18 and greater prevalence of structural abnormalities of the pons and cerebellum in trisomy 18.

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