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Last update 08 May 2025

Chromosome 18 Deletion Syndrome

Last update 08 May 2025

Basic Info

Synonyms

18Q Syndrome, 18q deletion syndrome, 18q syndrome

+ [31]

Introduction

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.

Drugs associated with Chromosome 18 Deletion Syndrome

Somatropin(Genentech, Inc.)

Target

GHR

Mechanism

GHR agonists

Active Org.

Ipsen Pharma SAS [+1]

Originator Org.

Genentech, Inc.

Active Indication

Renal function impairment with growth failure [+6]

Inactive Indication

Anorexia Nervosa [+8]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

United States

First Approval Date06 Apr 1979

Clinical Trials associated with Chromosome 18 Deletion Syndrome

NCT00134420

/ CompletedPhase 3IIT

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.

Start Date01 Feb 2001

Sponsor / Collaborator

University of Texas Health Science Center At San Antonio

[+1]

100 Clinical Results associated with Chromosome 18 Deletion Syndrome

100 Translational Medicine associated with Chromosome 18 Deletion Syndrome

0 Patents (Medical) associated with Chromosome 18 Deletion Syndrome

211

Literatures (Medical) associated with Chromosome 18 Deletion Syndrome

10 Oct 2024·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

Author: Wang, Zhiwei ; Gu, Qingqing ; Zhang, Jinglu ; Wang, Xin ; 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.

01 Oct 2024·Journal of Clinical Immunology

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Article

Author: Kobae, Hidehiko ; Okamoto, Yasuhiro ; Kamuro, Kazuhiro ; Noma, Kosuke ; Hashiguchi, Sho ; Akaike, Harumi ; Tomomasa, Dan ; 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.

01 Oct 2024·Journal of Genetic Counseling

Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings

Article

Author: Stark, Debra ; Van Riper, Marcia ; Larson, Catherine Cody ; Soileau, Bridgette ; Hale, Daniel E. ; Cody, Jannine D. ; O'Donnell, Louise

AbstractSiblings of individuals with disabilities hold a pivotal and sometimes unappreciated position in the lives of their brother or sister. We sought to understand the unique challenges and opportunities in relationships between children with chromosome 18 conditions and their siblings and to identify the ways to support this relationship. Participants were recruited through the lay advocacy organization, the Chromosome 18 Registry & Research Society. Fifty‐seven siblings from 36 families participated, using an investigator designed instrument, were asked to agree or disagreed with statements from four content areas (information and knowledge about the syndrome, feelings about the sibling relationship, involvement with and caregiving for their sibling, and support and advocacy). Siblings reported that they know their sibling with a disability very well and reported a wide range of emotions regarding their sibling. There was a strong sense of pride in their brother/sister's abilities, and many participants reported attempts to help others understand their brother/sister. Many siblings reported a dislike for the common assumption that their affected sibling is a burden on the family. Most participants reported feeling some degree of responsibility for their affected sibling, but many also reported that they enjoy this role. Sixty‐three parents from 36 families responded to the survey. Most parents felt their typically developing children enjoyed teaching new things to their affected child as well as being a good role model for them. Most parents also felt their typically developing child was comfortable telling others about their sibling's condition. Recommendations for interventions and future research are discussed.

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