Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis

Pediatric Dermatology

Volumn 24, Issue 4, 2007, Pages 426-428

  Guareschi, E ^a   Garavelli, L ^a   Pedori, S ^a   Di Lernia, V ^a   Grenzi, L ^a   Franchi, F ^a   Marinelli, M ^a   Croci, G F ^a   Pedretti, E ^b   Amarri, Sergio ^a   Banchini, G ^a   Albertini, Giuseppe ^a,c  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b Fiorenzuola d'Arda Hospital   (Italy)

^c Azienda Ospedaliera Arcisp S M   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; ISOCHROMOSOME; ISOCHROMOSOME 12P; JAUNDICE; KARYOTYPE 46,XY; MALE; PALLISTER KILLIAN SYNDROME; PATIENT REFERRAL; PEDIATRIC WARD; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST; SUPERNUMERARY CHROMOSOME;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; SKIN DISEASES; SYNDROME;

EID: 34548541160     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2007.00469.x     Document Type: Article

References (5)

1. Genevieve D, Cormier-Daire V, Sanlaville D et al. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet 2003 116A : 90 93.
2. Morichon-Delvallez N. Tetrasomie 12p ou syndrome de Pallister-Killian. Encyclopédie Orphanet. Avril 2002. Available at: http://www.orpha.net/ data/pathol/FR/fr-12p.pdf.
3. PKS. Pallister-Killian syndrome. OMIM database #601803. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601803.
4. Genevieve D, Sznajer Y, Raoul M et al. Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p). Am J Med Genet 2003 122A : 180 182.
5. FRNS. Fryns syndrome. OMIM database #229850. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850.