title: Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
abstract: Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a patient with a supernumerary chromosome involving chromosomes 12 and 14, which was confirmed by array-comparative genomic hybridization (aCGH). He had developmental delay and dysmorphic features overlapped with those of Pallister-Killian syndrome, which is derived from an isodicentric chromosome 12. The microblepharon identified in our patient is a characteristic feature of 12p trisomy. Further patients are needed to establish the phenotypic difference between trisomy 12p and Pallister-Killian syndrome.
authors.affiliation: Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Eisuke
authors.initials: E
authors.lastname: Inage
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Suzuki
authors.forename: Kei
authors.initials: K
authors.lastname: Minowa
authors.forename: Nahoko
authors.initials: N
authors.lastname: Akimoto
authors.forename: Ken
authors.initials: K
authors.lastname: Hisata
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Shoji
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D025063:Chromosome Disorders / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D003937:Diagnosis, Differential; D019066:Facies; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy