DiGeorge Syndrome

Alternative Names

  • DGS
  • Chromosome 22q11.2 Deletion Syndrome
  • Hypoplasia of Thymus and Parathyroids
  • Third and Fourth Pharyngeal Pouch Syndrome
  • Digeorge Syndrome Chromosome Region
  • DGCR
  • Takao VCF Syndrome
  • Catch22
Back to search Result
WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

188400

Mode of Inheritance

Autosomal dominant

Gene Map Locus

22q11.21

Description

DiGeorge syndrome is a rare congenital primary immune deficiency disease that includes symptoms such as abnormal characteristic facial features, increased susceptibility to infection, hypoplasia of thymus and parathyroid glands and cardiomyopathy. The incidence of DiGeorge syndrome is in the range of 1 per 3000 births, causing morbidity and mortality mainly due to congenital heart defect, where most deaths occur 6 months after birth. The second most common cause of mortality is infections due to severe immune deficiency. The syndrome is frequently progressive to psychomotor retardation with a 50% chance of mental retardation.

Most patients with DiGeorge syndrome have a micro deletion from chromosome 22 at position q11.2, produced by an error in recombination at meiosis. The symptoms of the disease are related to the amount of genetic material lost in the deletion.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
188400.1.1Saudi ArabiaMaleYesNo Hyperparathyroidism; Chvostek sign; Seiz...NM_080647.1:c.1158_1159delinsTHeterozygousAutosomal, DominantAlghamdi et al. 2020 Proband
188400.1.2Saudi ArabiaMaleYesNo Hypertelorism; Chvostek sign; Seizure; H...NM_080647.1:c.1158_1159delinsTHeterozygousAutosomal, DominantAlghamdi et al. 2020 Sibling of proband
188400.1.3Saudi ArabiaFemaleYesNo Otitis media; Seizure; HypocalcemiaNM_080647.1:c.1158_1159delinsTHeterozygousAutosomal, DominantAlghamdi et al. 2020 Sibling of proband
188400.1.4Saudi ArabiaMaleYesNo Hypoparathyroidism; Conductive hearing i...NM_080647.1:c.1158_1159delinsTHeterozygousAutosomal, DominantAlghamdi et al. 2020 Father of proband. S...
188400.2United Arab EmiratesFemaleNoNo Oligohydramnios; Intrauterine growth ret...NC_000002.12:g.18480458-21282545delHeterozygousAutosomal, DominantAlabdullatif et al. 2017

Other Reports

Kuwait

Bastaki et al. (2000) carried out a case-control study on 20 subjects suffering from CATCH 22 syndromes (monosomy 22q11.2) and 40 controls at Adan Hospital in Kuwait. The study was performed to determine the spectrum of diseases, the clinical characteristics and several risk factors connected to this syndrome.FISH method was employed and demonstrated 20% maternal carrier, 10% paternal carrier, and 10% parental mosaicism with both parents being asymptomatic.(Bastaki L, Al-Awadi S, Abul-Hasan S, Abdul-Khalek E, Azab A, Gouda S, Naguib K. CATCH 22 in Kuwait: a study of 20 families. Alexandria J Pediatrics. 2000; 14(1):101-6.)

[See also: Saudi Arabia > Mathew et al., 1986].

Lebanon

Mansour et al. (2005) conducted a retrospective study of 240 consecutive patients with congenital heart disease.Of the 105 syndromic subjects, five were found to have DiGeorge syndrome.

Saudi Arabia

Mathew et al. (1986) reported two children with hypoparathyroidism as part of DiGeorge Syndrome.

In 1999, Iqbal et al. used fluorescent in situ hybridization (FISH) to diagnose microdeletion syndromes in 4 patients with DiGeorge syndrome [del(22)(q11.2q11.23)]. They used the D22S75 DiGeorge chromosome region probe with chromosome 15 control probe.

© CAGS 2024. All rights reserved.