title: New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.
abstract: Interstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature. The phenotype may include facial dysmorphism, developmental delay, ectodermal abnormalities, cardiac and renal malformations depending on breakpoints' position. Here, we describe a third case of 12(q15-q21.2) deletion ascertained through CGH-array analyses and provide a 5-year follow-up. The patient presented with pre- and postnatal growth retardation, congenital heart defect, developmental delay, and facial dysmorphism changing with age, underlining the importance of long-term follow-up. We compared this new case with previous observations of 12q deletions in order to propose phenotype-karyotype correlations.
authors: Département de Génétique, Hôpital Necker Enfants Malades, Paris, France.
authors: Caroline
authors: C
authors: Schluth
authors: Roselyne
authors: R
authors: Gesny
authors: Guntram
authors: G
authors: Borck
authors: Richard
authors: R
authors: Redon
authors: Véronique
authors: V
authors: Abadie
authors: Pascale
authors: P
authors: Kleinfinger
authors: Arnold
authors: A
authors: Munnich
authors: Stanislas
authors: S
authors: Lyonnet
authors: Laurence
authors: L
authors: Colleaux
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D018895:Microsatellite Repeats; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis
chemical_list: D005819:Genetic Markers; D004247:DNA