title: Report on 3 patients with 12p duplication including GRIN2B.
abstract: The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a balanced parental translocation associated with other chromosomal imbalances. Of the reported cases, only 15 involve a pure and complete 12p duplication and only 10 involve a pure and partial duplication overlapping the 12p12.3p13.1 region, including a single instance of an inherited duplication in two related individuals. Here, we report three new patients with a pure 12p duplication, detected by conventional cytogenetic studies and characterized by array-comparative genomic hybridization (array-CGH) and fluorescence in situ hybridization (FISH). The first patient was a child carrying a de novo inverted duplication of the short arm of chromosome 12. His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. The second and third patients were a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder phenotype characterized by moderate developmental delays, dysmorphic facial features, behavioral problems and obesity. The present data, including the rarity of the familial cases, should contribute to our knowledge of the genotype/phenotype correlation in trisomy 12p patients.
authors: Department of Genetics, Robert Debre University Hospital, Reims, France. Electronic address: celine.violle@gmail.com.
authors: Celine
authors: C
authors: Poirsier
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Emilie
authors: E
authors: Landais
authors: Department of Pediatrics, Robert Debre University Hospital, Reims, France.
authors: Nathalie
authors: N
authors: Bednarek
authors: E.P.A.R.S, Marchais, France.
authors: Jean-Marie
authors: JM
authors: Nobecourt
authors: Department of Pediatrics, Laon Hospital, Laon, France.
authors: Maroun
authors: M
authors: Khoury
authors: EA3801, URCA, Reims, France.
authors: Pascal
authors: P
authors: Schmidt
authors: Department of Pediatrics, Robert Debre University Hospital, Reims, France.
authors: Patrice
authors: P
authors: Morville
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Nadine
authors: N
authors: Gruson
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Sandrine
authors: S
authors: Clomes
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Nicole
authors: N
authors: Michel
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Anita
authors: A
authors: Riot
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Christelle
authors: C
authors: Manjeongean
authors: Department of Genetics, Robert Debre University Hospital, Reims, France.
authors: Dominique
authors: D
authors: Gaillard
authors: Department of Genetics, Robert Debre University Hospital, Reims, France; EA3801, URCA, Reims, France.
authors: Martine
authors: M
authors: Doco-Fenzy
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
chemical_list: C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate
keywords: 12p Duplication; Chromosome 12; Familial; GRIN2B