aCGH detects partial tetrasomy of 12p in blood from pallister-killian syndrome cases without invasive skin biopsy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 914-918

  Theisen, Aaron ^a   Rosenfeld, Jill A ^a   Farrell, Sandra A ^b   Harris, Catharine J ^c   Wetzel, Heather H ^c   Torchia, Beth A ^a   Bejjani, Bassem A ^a   Ballif, Blake C ^a   Shaffer, Lisa G ^a,d  

^a PerkinElmer   (United States)

^b CREDIT VALLEY HOSPITAL   (Canada)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^d Signature Genomic Laboratories LLC   (United States)

Author keywords

Microarray; Mosaicism; Pallister killian syndrome; Skin biopsy

Indexed keywords

GENOMIC DNA;

ARTICLE; CHROMOSOME 12P; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; INTERPHASE; ISOCHROMOSOME; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; METAPHASE; MOSAICISM; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL; SKIN BIOPSY; TETRASOMY;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; GENETIC SCREENING; HUMANS; HYPERPIGMENTATION; HYPOPIGMENTATION; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCHROMOSOMES; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEIZURES; SKIN; SYNDROME;

EID: 66849138600     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32767     Document Type: Article

References (23)

1. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. 2006. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet Part A 140A:2757-2767.
2. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khe- tarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG. 2008. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1:8.
3. Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG. 2005. Use of targeted array-based CGH for the clinical diagnosis ofchromosomal imbalance: Is less more? Am J Med Genet Part A 134A:259-267.
4. Bielanska MM, Khalifa MM, Duncan AM. 1996. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
5. Kayser M, Henderson LB, Kreutzman J, Schreck R, Graham JM, Jr. 2000. Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. Am J Med Genet 95:281-284.
6. Kingston HM, Nicolini U, Haslam J, Andrews T. 1993.46:XY/47,XY, + 17p + mosaicism in amniocyte associated with fetal abnormalities despite normal fetal blood karyotype. Prenat Diagn 13:637-642.
7. Kulharya AS, Lovell CM, Flannery DB. 2002. Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies. Am J Med Genet 113: 367-370.
8. Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomaki P, Simola K, Kaariainen H, von Koskull H, Kahkonen M, Knuutila S. 1993. Molecular cytogenetic study ofpatients with Pallister-Killian syndrome. Hum Genet 91:121-127.
9. LessickML, Szego K, Wong PW. 1988. Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. Clin Pediatr (Phila) 27:451-454.
10. Magenis E, Webb MJ, Spears B, Opitz JM. 1999. Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. Am J Med Genet 87:375-383.
11. Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu VR, Worsham MJ, Wilson GN, Weiss L. 1990. The frequency ofaneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet 46:1101-1111.
12. Pagon RA, Hall JG, Davenport SL, Aase J, Norwood TH, Hoehn HW. 1979. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 31: 54-61.
13. Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A. 1987. Pallister-Killian syndrome: Cytogenetic and molecular studies. Clin Genet 31:399-405.
14. Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Ru- myantseva N, Naumchik I. 2005. Pallister-Killian syndrome: Rapid decrease of isochromosome 12p frequency during amniocyte subcultur- ing. Conclusion for strategy of prenatal cytogenetic diagnostics. J His- tochem Cytochem 53:361 -364.
15. Priest JH, Rust JM, Fernhoff PM. 1992. Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: Relevance for prenatal diagnosis. Am J Med Genet 42:820-824.
16. ReeserSL, WengerSL. 1992. Failure of PHA-stimulatedi(12p) lymphocytes to divide in Pallister-Killian syndrome. Am J Med Genet 42:815-819.
17. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, et al. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases. Am J Med Genet 27:257-274.
18. Schinzel A. 1991. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125.
19. Shaffer LG, McCaskill C, Han JY, Choo KH, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL. 1994. Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
20. Van den Veyver IB, Macha ME, McCaskill C, Carpenter RJ, Jr., Shaffer LG. 1993. Prenatal diagnosis and clinical findings in a case of hexasomy 12p. Am J Med Genet 47:1171-1174.
21. Warburton D, Anyane-Yeboa K, Francke U. 1987. Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. Am J Med Genet 27:275-283.
22. Ward BE, Hayden MW, Robinson A. 1988. Isochromosome 12p mosaicism (Pallister-Killian syndrome): Newborn diagnosis by direct bone marrow analysis. Am J Med Genet 31:835-839.
23. Wenger SL, Boone LY, Steele MW. 1990. Mosaicism in Pallister i(12p) syndrome. Am J Med Genet 35:523-525.