title: 20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.
abstract: BACKGROUND
  Orofacial cleft (OFC) is one of the most common congenital malformations with a global incidence of approximately 1/700 live births. Clinically, OFCs can be syndromic or non-syndromic.
  
  
  METHODS
  A 5 years old boy admitted for genetic evaluation because of psychomotor delay, failure to thrive, dysmorphic features and cleft palate. Conventional cytogenetic showed a notably short p arm of one chromosome 20. FISH analysis identified the derivative chromosome 20 as a de novo 20p12.3 deletion.
  
  
  CONCLUSIONS
  We present in this paper a Moroccan patient with syndromic cleft palate caused by a de novo 20p12.3 deletion, and we highlight the interest of FISH in the diagnosis confirmation of chromosomal rearrangement. In practice, 20p12.3 deletion should be considered as an etiological diagnosis in the case of syndromic cleft palate.
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco. saadiagen@gmail.com.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. saadiagen@gmail.com.
authors.forename: Saadia
authors.initials: S
authors.lastname: Amasdl
authors.affiliation: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. abdelnat@yahoo.fr.|Faculté des Sciences, Université Mohammed V, Rabat, Morocco. abdelnat@yahoo.fr.
authors.forename: Abdelhafid
authors.initials: A
authors.lastname: Natiq
authors.affiliation: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. aziza_sbiti@yahoo.fr.
authors.forename: Aziza
authors.initials: A
authors.lastname: Sbiti
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco. maria_zer@hotmail.fr.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. maria_zer@hotmail.fr.
authors.forename: Maria
authors.initials: M
authors.lastname: Zerkaoui
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco. jaber.lyahyai@gmail.com.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: Faculté des Sciences, Université Mohammed V, Rabat, Morocco. amzazi@gmail.com.
authors.forename: Saaid
authors.initials: S
authors.lastname: Amzazi
authors.affiliation: Institut de Génétique Humaine, Hôpital Universitaire de Jena, Jena, Germany. Thomas.Liehr@med.uni-jena.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V , Rabat, Morocco. sefianigen@hotmail.com.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. sefianigen@hotmail.com.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male