Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
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.
Inage
Eisuke
E
Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan.
Suzuki
Mitsuyoshi
M
Minowa
Kei
K
Akimoto
Nahoko
N
Hisata
Ken
K
Shoji
Hiromichi
H
Okumura
Akihisa
A
Shimojima
Keiko
K
Shimizu
Toshiaki
T
Yamamoto
Toshiyuki
T
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