22q11.2 deletion (Di George syndrome)

22q11.2 deletion (Di George syndrome) Relevant markers:

Aberrant right subclavian artery (ARSA)Absent pulmonary valve syndromeAbsent rib/sAgenesis of cerebellumBulbous nasal tipCardiomegalyClubfootCoarctation of aortaConoseptal ventricular septal defect (VSD)Conotruncal anomaliesDouble outlet right ventricle (DORV)Facial dysmorphismMild pyelectasis/hydronephrosisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPericardial effusionPolydactylyPolyhydramniosPolymicrogyriaPosterior fossa cystPulmonary artery atresiaRight aortic archSpina bifida apertaTetralogy of Fallot (TOF)Thymic hypoplasia/aplasia/agenesisTransient pedal edemaTruncus arteriosusCongenital diaphragmatic hernia (CDH)

Parents markers:

Amniotic fluidCerebellumCleft in hard palateHemivertebraInterrupted aortaIntrauterine growth retardation (IUGR/SGA/FGR)KidneysNoseOpen neural tube defect (NTD)Pyelectasis/hydronephrosisTransposition of great arteriesVentricular septal defect (VSD)

Incidence:

1/4000 — 1/6000

Involved genes:
(gene — definition — chromosome)

microdélètion 22q11 — TBX1 — bras long du chromosome 22

Inheritance mode:

AD, AR, Sporadic (new mutation)

Other online databases:

OrphaNet: orpha567, OMIM

References:

2010	Eur J Med Genet	8 prenatal cases	Read on PubMed
2011	Rev Med Chir Soc Med Nat Iasi		Read on PubMed
2014	Am J Med Genet A	Series of 74 cases	Read on PubMed
2014	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2015	J Obstet Gynaecol Res		Read on PubMed
2015	Ultrasound Obstet Gynecol	Case report (transient pedal edema)	Read on PubMed
2016	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2016	Ultrasound Obstet Gynecol	Retrospective study (ARSA)	Read on PubMed
2017	Am J Med Genet A	Cohort analysis (CDH)	Read on PubMed