title: Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.
abstract: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far.
  
  
  
  Here we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size in the area 15q11.2-q13.3, combined with a 3.2 Mb deletion at region 22q11.1-q11.21. FISH analysis in the mother showed a cryptic balanced translocation between chromosome 15 and chromosome 22 (not evident by classic karyotyping). DISCUSION: The clinical manifestations could be related to both syndromes and the importance of array-CGH analysis in cases of unexplained developmental delay is emphasized. The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family.
authors.affiliation: Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece. emanolakosgr@yahoo.gr.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarri
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kefalas
authors.forename: Eleni
authors.initials: E
authors.lastname: Leze
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleus
authors.forename: George
authors.initials: G
authors.lastname: Kitsos
authors.forename: Konstantina
authors.initials: K
authors.lastname: Merou
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Anna
authors.initials: A
authors.lastname: Papadopoulou
authors.forename: Achilleas
authors.initials: A
authors.lastname: Attilakos
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli