title: A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
abstract: BACKGROUND
  We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before.
  
  
  RESULTS
  Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A.
  
  
  CONCLUSIONS
  The present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The smallest region of overlapping between all four reported patients is around 300 kb and spans only two genes: NFIX and CACNA1A. Their haploinsufficincy could be the base for the phenotype -genotype correlation.
authors: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco ; Faculté des Sciences de Rabat, Université Mohamed V Agdal, Rabat, Morocco.
authors: Abdelhafid
authors: A
authors: Natiq
authors: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco ; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Rabat, Morocco.
authors: Siham Chafai
authors: SC
authors: Elalaoui
authors: Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire, Nancy, France.
authors: Sevrine
authors: S
authors: Miesch
authors: Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire, Nancy, France.
authors: Celine
authors: C
authors: Bonnet
authors: Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire, Nancy, France.
authors: Philippe
authors: P
authors: Jonveaux
authors: Faculté des Sciences de Rabat, Université Mohamed V Agdal, Rabat, Morocco.
authors: Saaïd
authors: S
authors: Amzazi
authors: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco ; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Rabat, Morocco.
authors: Abdelaziz
authors: A
authors: Sefiani
keywords: 19p13.2p13.12 deletion; Array comparative genomic hybridization; Overgrowth; Psychomotor delay