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last update : 11-01-2012
Symbol DEL22Q11D
Location 22q11.21
Name chromosome 22q11.2 microdeletion syndrome, distal to the DG/VCF typically deleted region
Other name(s) monosomy 22q11.2 distal to DGSCR
Corresponding gene BCR , MAPK1
Other symbol(s) del22q11.2, dup22q11.2
Main clinical features
  • prematurity, prenatal and postnatal growth restriction, learning difficulties and/or developmental delay, characteristic facial features, skeletal abnormalities, and increased incidence of a specific type of heart defect, truncus arteriosus
  • common facial dysmorphic features: arched eyebrows, flattened midface, smooth philtrum, thin upper lip, hypoplastic alae nasi, and a small, pointed chin.
  • diaphragmatic hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome, 3 patients with Goldenhar syndrome PMID: 21671380
  • Genetic determination chromosomal
    genomic disorder
    Function/system disorder mental retardation
    Type MCA/MR
    Gene product
    Name spanning approximately 20 genes, among which MAPK1 could be a candidate gene for low birth weight and prematurity
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency either a ~1.4 Mb or ~2.1 Mb recurrent deletion flanked proximally by LCR22-4 and distally by either LCR22-5 or LCR22-6, respectively.
  • some cases have been fortuitously detected using the LSI BCR control FISH probe
  • craniofacial and cardiac outflow tract defects observed in patients with a distal 22q11.2 micro-deletion are explained by deficiencies in neural crest autonomous MAPK1 signaling
  • Genotype/Phenotype correlations no clear difference in the severity or the phenotype between the larger ~2.1 Mb deletion and the smaller nested ~1.4 Mb deletion; reciprocal 2.1 Mb duplication was reported; 1 case encompassing SMARCB1 with Goldenhar syndrome and brain tumor(AT/RT); a novel recurrent 22q11 deletion that spans LCR22-4 and partially affects the common 22q11.2 deletion syndrome and the distal 22q11 deletion syndrome in a normally developing girl with growth delay, microcephaly, and truncus arteriosus denote the genes CRKL and MAPK1 as the highest ranking candidates for causing congenital heart disease PMID: 22318985;;