Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Costa, Larissa Sampaio De Athayde ^a   Zandona Teixeira, Aline C ^a   Montenegro, Marilia M ^a   Dias, Alexandre T ^a   Dutra, Roberta L ^a   Honjo, Rachel S ^a   Bertola, Debora R ^a   Kulikowski, Leslie D ^a   Kim, Chong A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Buccal smear; Isochromosome 12p; MLPA; Pallister Killian syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAZILIAN; CAUSE OF DEATH; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FIBROBLAST CULTURE; FOLLOW UP; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; MALE; MEDICAL RECORD REVIEW; MORTALITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ORAL BIOPSY; PALLISTER KILLIAN SYNDROME; PNEUMONIA; PRENATAL PERIOD; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 84933522029     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0142-7     Document Type: Article

References (22)

1. Liehr T. Small supernumerary marker chromosomes. 2015. http://ssmc-tl.com/sSMC.html [accessed 03/16/2015].
2. Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991;28:122-5.
3. Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, et al. Novel clinical manifestations in Pallister Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. Am J Med Genet Part A. 2012;158A:3002-17.
4. Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. Am J Med Genet Part A. 2012;158A:3018-25.
5. Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, et al. Mild phenotype in a 15 year old boy with Pallister-Killian syndrome. Am J Med Genet Part A. 2003;116A:90-3.
6. Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM. Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p. Am J Med Genet Part A. 2009;149A:510-4.
7. Stalker HJ, Gray BA, Bent-Williams A, Zori RT. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am J Med Genet Part A. 2006;140A:1950-4.
8. Shen JD, Liang DS, Zhou ZM, Xia Y, Long ZG, Wu LQ. Pallister-Killian syndrome: meiosis II non-disjunction may be the first step in the formation of isochromosome 12p. Chin Med J (Engl). 2010;123(23):3482-5.
9. Wenger SL, Boone LY, Steele MW. Mosaicism in Pallister i(12p) syndrome. Am J Med Genet. 1990;35:523-5.
10. Leube B, Majewski F, Gebauer J, Royer-Pokora B. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet A. 2003;123A:296-300.
11. Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, et al. Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am J Med Genet. 1997;69:166-8.
12. Sugayama SM, Bertola DR, Albano LMJ, Manissadjian A, Bittencourt EA, Borovik C, et al. Síndrome de Pallister Killian ou tetrassomia do braço curto do cromossomo 12 em mosaico: relato de dois casos diagnosticados pela hibridização in situ por fluorescência (FISH). Pediatria (São Paulo). 2000;22:255-63.
13. Tilton RK, Wilkens A, Krantz ID, Izumi K. Cardiac manifestations of Pallister-Killian syndrome. Am J Med Genet Part A. 2014;164A:1130-5.
14. Graham W, Brown SM, Shah F, Tonk VS, Kukolich MK. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p). Arch Ophthalmol. 1999;117:1648-9.
15. Candee MS, Carey JC, Krantz ID, Filloux FM. Seizure characteristics in Pallister-Killian syndrome. Am J Med Genet Part A. 2012;158A:3026-32.
16. Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS. Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome. Eur J Med Genet. 2012;55:367-73.
17. Giordano L, Viri M, Borgatti R, Lodi M, Accorsi P, Faravelli F, et al. Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients. Eur J Paediatr Neurol. 2012;16:636-41.
18. Liehr T, Wegner RD, Stumm M, Joksie G, Polityko A, Kosyakova N, et al. Pallister-Killian syndrome: rare phenotypic features and variable karyotypes. Balk J Med Gen. 2008;11:65-7.
19. Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, et al. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. BMC Res Notes. 2012;5:13.
20. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ. Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis. Mol Cytogenet. 2011;4:2.
21. Rooney D. Human cytogenetics constitutional analysis. 3rd ed. Oxford, UK: Oxford University Press; 2001.
22. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986;83:2934-8.