title: 22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.
abstract: BACKGROUND
  Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system.
  
  
  METHODS
  A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion.
  
  
  RESULTS
  At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia.
  
  
  CONCLUSIONS
  We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.
authors.affiliation: Department of Gynecology and Obstetrics, HFR , Fribourg , Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Vachette
authors.affiliation: Department of Gynecology and Obstetrics, HFR , Fribourg , Switzerland.
authors.forename: G E
authors.initials: GE
authors.lastname: Grant
authors.affiliation: Department of Gynecology and Obstetrics, HFR , Fribourg , Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Bouquet de la Joliniere
authors.affiliation: Institute of Pathology, CHUV , Lausanne , Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Jotterand
authors.affiliation: Department of Gynecology and Obstetrics, HFR , Fribourg , Switzerland.
authors.forename: N
authors.initials: N
authors.lastname: Ben Ali
authors.affiliation: Department of Gynecology and Obstetrics, HFR , Fribourg , Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Feki
authors.affiliation: Department of Gynecology and Obstetrics, HNE , Neuchâtel , Switzerland.
authors.forename: R
authors.initials: R
authors.lastname: Capoccia Brugger
keywords: 22q11 deletion syndrome; CATCH22 syndrome; DiGeorge syndrome; hypospadias; renal agenesis; urogenital manifestations