title: [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
abstract: Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microdeletion is detected by fluorescence in situ hybridization (FISH). The highly variable phenotype makes diagnosis and selection for FISH more difficult.
  
  
  OBJECTIVE
  To retrospectively analyze and compare the phenotype of children with a clinical diagnosis of VCFS with/without 22q11 deletion; to verify the validity of literature guidelines and to describe combinations of clinical features that should lead to molecular analysis.
  
  
  METHODS
  The present study was performed in 21 patients with a clinical diagnosis of VCFS. Methaphase chromosome spreads were prepared from phytohaemagglutinin stimulated lymphocyte culture by standard methods before FISH. The patients were divided into two groups according to FISH test: positive and negative.
  
  
  RESULTS
  The features commonly noticed in FISH positive patients were: palatal abnormalities/hypernasal speech, learning disabilities, facial dysmorphism, tapered fingers (6/6), CHD (5/6) and recurrent infections (2/6). In FISH negative patients the following were found: learning disabilities, CHD (12/15); facial dysmorphism (10/15), family history of CHD (7/15), short stature (6/15), hypocalcemia, tapered fingers (5/15), recurrent infections (3/15) and palatal cleft (2/15). In both groups, Tobias and McDonald-McGinn guidelines were positive.
  
  
  CONCLUSIONS
  VCFS has a highly variable phenotype. Our study suggests that 22q11.2 deletion analysis by FISH should be performed in patients who have at least 2 (newborn)/3 (child, adult) specific criteria: CHD, hypocalcemia, palatal abnormalities, facial dysmorphism, learning disabilities, digital anomalies, and immune deficit.
authors: Universitatea de Medicină şi Farmacie "Gr. T. Popa" Iaşi, Disciplina de Genetică Medicală.
authors: Monica
authors: M
authors: Pânzaru
authors: Cristina
authors: C
authors: Rusu
authors: M
authors: M
authors: Voloşciuc
authors: Elena
authors: E
authors: Braha
authors: Lăcrămioara
authors: L
authors: Butnariu
authors: I
authors: I
authors: Ivanov
authors: Mihaela
authors: M
authors: Grămescu
authors: Roxana
authors: R
authors: Popescu
authors: Lavinia
authors: L
authors: Caba
authors: Adriana
authors: A
authors: Sireteanu
authors: M
authors: M
authors: Macovei
authors: M
authors: M
authors: Covic
authors: E V
authors: EV
authors: Gorduza
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000465:Algorithms; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies