Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome

European Journal of Medical Genetics

Volumn 53, Issue 3, 2010, Pages 159-161

  Inage, Eisuke ^a   Suzuki, Mitsuyoshi ^a   Minowa, Kei ^a   Akimoto, Nahoko ^a   Hisata, Ken ^a   Shoji, Hiromichi ^a   Okumura, Akihisa ^a   Shimojima, Keiko ^b   Shimizu, Toshiaki ^a   Yamamoto, Toshiyuki ^b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

12p trisomy; Chromosome 12; Chromosome 14; Microarray based comparative genomic hybridization (array CGH); Pallister Killian syndrome; Supernumerary marker chromosome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME 14; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; ECHOGRAPHY; ENDOTRACHEAL INTUBATION; EVOKED BRAIN STEM AUDITORY RESPONSE; EYELID DISEASE; FACE DYSMORPHIA; FOOT MALFORMATION; HUMAN; HYPERTELORISM; LARYNGOMALACIA; LONG PHILTRUM; MALE; MICROBLEPHARON; MICROGNATHIA; MUSCLE HYPOTONIA; NECK MALFORMATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATOPLASTY; PALLISTER KILLIAN SYNDROME; PHENOTYPIC VARIATION; PRESCHOOL CHILD; STRIDOR; TRACHEOSTOMY; TRISOMY 12; CHROMOSOME 12; CHROMOSOME DISORDER; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DNA MICROARRAY; FACIES; GENETICS; INFANT; PHENOTYPE; SYNDROME; TRISOMY;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FACIES; HUMANS; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME; TRISOMY;

EID: 77951978314     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.02.009     Document Type: Article

References (11)

1. Allen T.L., Brothman A.R., Carey J.C., and Chance P.F. Cytogenetic and molecular analysis in trisomy 12p. Am. J. Med. Genet. 63 (1996) 250-256
2. Liehr T., Mrasek K., Weise A., Dufke A., Rodriguez L., et al. Small supernumerary marker chromosomes - progress towards a genotype-phenotype correlation. Cytogenet. Genome Res. 112 (2006) 23-34
3. Rauch A., Trautmann U., and Pfeiffer R.A. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am. J. Med. Genet. 63 (1996) 243-249
4. Segel R., Peter I., Demmer L.A., Cowan J.M., Hoffman J.D., et al. The natural history of trisomy 12p. Am. J. Med. Genet. A 140 (2006) 695-703
5. Shimojima K., Inoue T., Fujii Y., Ohno K., and Yamamoto T. A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur. J. Med. Genet. 52 (2009) 433-435
6. Smigiel R., Pilch J., Makowska I., Busza H., Slezak R., et al. The Pallister-Killian syndrome in a child with rare karyotype - a diagnostic problem. Eur. J. Pediatr. 167 (2008) 1063-1065
7. Stengel-Rutkowski S., Albert A., Murken J.D., Zahn-Messow K., Rodewald A., et al. New chromosomal dysmorphic syndromes. 4. Trisomy 12p. Eur. J. Pediatr. 136 (1981) 249-262
8. Tekin M., Jackson-Cook C., and Pandya A. De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon. Am. J. Med. Genet. 104 (2001) 42-46
9. Theisen A., Rosenfeld J.A., Farrell S.A., Harris C.J., Wetzel H.H., et al. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. Am. J. Med. Genet. A 149A (2009) 914-918
10. Volleth M., Stumm M., Burger J., Muschke P., and Wieacker P. Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14. Cytogenet. Genome Res. 108 (2005) 283-286
11. Zumkeller W., Volleth M., Muschke P., Tonnies H., Heller A., et al. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. Am. J. Med. Genet. A 129A (2004) 261-264