title: De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
abstract: BACKGROUND
  Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array-CGH. This is the first case diagnosed prenatally.
  
  
  METHODS
  We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deletion in a fetus with facial dysmorphism, spina bifida, and cleft palate.
  
  
  RESULTS
  Array-CGH analysis revealed a 5.6 Mb interstitial deletion of the long arm of chromosome 2q36.1q36.3, including the PAX3 and EPHA4 genes.
  
  
  CONCLUSIONS
  The present study reinforces the hypothesis that PAX3 haploinsufficiency may be associated with neural tube defects in humans and suggests that the EPHA4 gene might be implicated during palate development. This report also illustrates the added value of array-CGH to detect cryptic chromosomal imbalances in malformed fetuses and to improve genetic counseling prenatally.
authors.affiliation: Cytogénétique Médicale, Université Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.forename: Mathilde
authors.initials: M
authors.lastname: Gay-Bellile
authors.forename: Eléonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: Stephan
authors.initials: S
authors.lastname: Kemeny
authors.forename: Laetitia
authors.initials: L
authors.lastname: Gouas
authors.forename: Pierre
authors.initials: P
authors.lastname: Déchelotte
authors.forename: Denis
authors.initials: D
authors.lastname: Gallot
authors.forename: Lauren
authors.initials: L
authors.lastname: Véronèse
authors.forename: Andrei
authors.initials: A
authors.lastname: Tchirkov
authors.forename: Céline
authors.initials: C
authors.lastname: Pebrel-Richard
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D055028:Comparative Genomic Hybridization; D005260:Female; D005333:Fetus; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007621:Karyotyping; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000172:deficiency / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D036122:Receptor, EphA4 / Q000172:deficiency / Q000235:genetics*; D016135:Spinal Dysraphism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D036122:Receptor, EphA4
keywords: 2q36 deletion; EPHA4; PAX3; array-CGH; cleft palate; spina bifida