Brain MRI findings of older patients with Pallister-Killian syndrome

Brain and Development

Volumn 28, Issue 1, 2006, Pages 34-38

  Saito, Yoshiaki ^a,b   Masuko, Kaori ^a   Kaneko, Kaori ^a,b   Chikumaru, Yuri ^a   Saito, Kazuyo ^a   Iwamoto, Hiroko ^a   Matsui, Akira ^a   Aida, Noriko ^c   Kurosawa, Kenji ^c   Kuroki, Yoshikazu ^a,d   Kimura, Seiji ^a  

^a Yokohama Ryo iku Medical Center   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d KAWASAKI UNIVERSITY OF MEDICAL WELFARE   (Japan)

Author keywords

Basal ganglia; Corpus callosum; Magnetic resonance imaging; Mosaic tetrasomy; Pallister Killian syndrome; White matter

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BASAL GANGLION; BRAIN; BRAIN ATROPHY; BRAIN STEM; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLUM ATROPHY; CHEEK MUCOSA; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORPUS CALLOSUM; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL CORTEX; HUMAN; HYPOPLASIA; LATERAL BRAIN VENTRICLE; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLISTER KILLIAN SYNDROME; PERIPHERAL LYMPHOCYTE; PONS; PUTAMEN; SIGNAL DETECTION; WHITE MATTER;

ADULT; BRAIN DISEASES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE;

EID: 29944434646     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.04.004     Document Type: Article

References (18)

1. P.D. Pallister, L.F. Meisner, B.R. Elejalde, U. Francke, J. Herrmann, and J. Spranger The Pallister mosaic syndrome Birth Defects Orig Artic Ser 13 1977 103 110
2. W. Killian, and M. Teschler-Nicola Case report 72: mental retardation, unusual facial appearance, abnormal hair Synd Ident 7 1981 6 7
3. J.F. Reynolds, A. Daniel, T.E. Kelly, S.M. Gollin, M.J. Stephan, and J. Carey Isochromosome 12p mosaicism (Pallister Mosaic Aneuploidy or Pallister-Killian syndrome): report of 11 cases Am J Med Genet 27 1987 257 274
4. L.J. Raffel, T. Mohandas, and D.L. Rimoin Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome Am J Med Genet 24 1986 607 611
5. O.W.J. Quarell, M.A. Hamill, and H.E. Hughes Pallister-Killian mosaic syndrome with emphasis on the adult phenotype Am J Med Genet 31 1988 841 844
6. J. Bergoffen, H. Punnett, T.J. Campbell, A.J. Ross 3rd, E. Ruchelli, and E.H. Zackai Diaphragmatic hernia in tetrasomy 12p mosaicism J Pediatr 122 1993 603 606
7. R. Schubert, R. Viersbach, T. Eggermann, M. Hansmann, and G. Schwanitz Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection Am J Med Genet 72 1997 106 110
8. H. Ohashi, S. Ishikiriyama, and Y. Fukushima New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescent in situ hybridization Am J Med Genet 45 1993 123 128
9. M.M. Bielanska, M.M. Khalifa, and A.M. Duncan 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 1996 104 108
10. M.F. Zakowski, Y. Wright, and A. Ricci Jr Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome) Am J Med Genet 42 1992 323 325
11. J.I. Rodriguez, I. Garcia, J. Alvarez, A. Delicado, and J. Palacios Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome Am J Med Genet 53 1994 176 181
12. S. Gilgenkrantz, P. Droulle, M. Schweitzer, B. Foliguet, B. Chadefaux, and M. Lombard Clin Genet 28 1985 495 502
13. G. Horneff, F. Majewski, B. Hildebrand, T. Voit, and H.G. Lenard Pallister-Killian syndrome in older children and adolescents Pediatr Neurol 9 1993 312 315
14. M. el-Naggar, and M. Hawthorne Pallister-Killian syndrome: an unusual presentation J Laryngol Otol 108 1994 669 670
15. M.G. Butler, and V.G. Dev Pallister-Killian syndrome detected by fluorescence in situ hybridization Am J Med Genet 57 1995 498 500
16. M. Mathieu, Ch. Piussan, F. Thepot, A. Gouget, D. Lacombe, and J.M. Pedespan Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children) Ann Genet 40 1997 45 54
17. L. Mauceri, G. Sorge, G. Incorpora, and L. Pavone Pallister-Killian syndrome: case report with pineal tumor Am J Med Genet 95 2000 75 78
18. P. Chiurazzi, J. Bajer, E. Tabolacci, M.G. Pomponi, R. Lecce, and M. Zollino Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome Am J Med Genet 130A 2004 315 316