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American Journal of Medical Genetics

Volumn 95, Issue 1, 2000, Pages 75-78

Pallister-Killian syndrome: Case report with pineal tumor

(4) Mauceri, Laura a,b Sorge, Giovanni a Incorpora, Gemma a Pavone, Lorenzo a

a UNIVERSITY OF CATANIA (Italy)

b Divisione di Neurologia Pediatrica (Italy)

Author keywords

Isochromosome 12p; Pallister Killian syndrome (PKS); Pineal tumor

Indexed keywords

ADOLESCENT; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; FACE MALFORMATION; FEMALE; GERM CELL TUMOR; HUMAN; ISOCHROMOSOME; MENTAL DEFICIENCY; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLISTER KILLIAN SYNDROME; PINEAL BODY TUMOR; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN NEOPLASMS; CASE REPORT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; FACE; FEMALE; HUMAN; ISOCHROMOSOMES; MENTAL RETARDATION; PINEAL GLAND; PINEALOMA; SYNDROME;

EID: 0034614012 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20001106)95:1<75::AID-AJMG15>3.0.CO;2-J Document Type: Article

Times cited : (12)

References (18)

1
- 0027518687
- Diaphragmatic hernia in tetrasomy 12p mosaicism
- (1993) J Pediatr , vol.122 , pp. 603-606
- Bergoffen, J.¹ Punnett, H.² Campbell, T.³ Ross, A.J.⁴ Ruchelli, E.⁵ Zackai, E.H.⁶

2
- 0024975359
- Isochromosome of the short arm of chr. 12: Clinically useful markers for male germ ceil tumors
- (1989) J Natl Cancer Inst , vol.81 , pp. 1874-1878
- Bosl, G.J.¹ Dmitrovsky, E.² Rutter, V.E.³ Samaniego, F.⁴ Rodriguez, E.⁵ Geller, N.L.⁶ Chaganti, R.S.⁷

3
- 0031786137
- Pallister-Killian syndrome, i(12p): First prenatal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization
- (1998) Clin Genet , vol.54 , pp. 294-302
- Chiesa, J.¹ Hoffet, M.² Rousseau, O.³ Bourgeois, J.M.⁴ Sarda, P.⁵ Mares, P.⁶ Bureau, J.P.⁷

4
- 2642703412
- Immature teratoma of the pineal gland with isochromosome 12p
- (1998) Acta Neuropathol , vol.95 , pp. 107-110
- Dal Cin, P.¹ Dei Tos, A.P.² Qi, H.³ Giannini, C.⁴ Furlanetto, A.⁵ Longatti, P.L.⁶ Marynen, P.⁷ Van den Berghe, H.⁸

5
- 0024460187
- Isochromosome 12p in mediastinal germ cell tumors
- (1989) Cancer Genet Cytogenet , vol.42 , pp. 243-251
- Dal Cin, P.¹ Drochmans, A.² Moerman, P.³ Van den Berghe, H.⁴

6
- 0028230047
- Isochromosome 12p positive pineal germ cell tumor
- (1994) Cancer Res , vol.54 , pp. 1542-1544
- DeBruin, T.W.¹ Slater, R.M.² Defferrari, R.³ Geurts van Kessel, A.⁴ Suijkerbuijk, R.F.⁵ Jansen, G.⁶ De Jong, B.⁷ Oosterhuis, J.W.⁸

7
- 0032946794
- Pineal region tumours in childhood: A 30-year experience
- (1999) Child's Nerv Syst , vol.15 , pp. 119-127
- Drummond, K.J.¹ Rosenfeld, J.V.²

8
- 0027450039
- Molecular cytogenetics of human germ cell tumors: I(12p) and related chromosomal anomalies
- (1993) Eur Urol , vol.23 , pp. 23-28
- Geurts van Kessel, A.¹ Suijkerbuijk, R.F.² Sinke, R.J.³ Looijenga, L.⁴ Oosterhuis, J.W.⁵ De Jong, B.⁶

9
- 0021213305
- Malignant teratoma of the testis with an isochromosome n.12, i(12p), as the sole structural cytogenetic abnormality
- (1984) J Urol , vol.131 , pp. 762-763
- Gibas, Z.¹ Prout G.R., Jr.² Sandberg, A.A.³

10
- 0028936670
- Pallister-Killian syndrome: Normal karyotype in prenatal chorionic villi, in postnatal lymphocytes and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts
- (1995) J Med Genet , vol.32 , pp. 68-71
- Horn, D.¹ Majewski, F.² Hildebrandt, B.³ Korner, H.⁴

11
- 0003802608
- Case report 72: Mental retardation, unusual facial appearance, abnormal hair
- (1981) Synd Ident , vol.7 , pp. 6-7
- Killian, W.¹ Teschler-Nicola, M.² Killian, W.³

12
- 0032989692
- Pathogenesis of testicular germ cell tumours
- (1999) Rev Reprod , vol.4 , pp. 90-100
- Looijenga, L.H.¹ Oosterhuis, J.W.²

13
- 0031744080
- Intracranial germ cell tumour (embryonal carcinoma with teratoma) with complex karyotype including isochromosome 12p
- (1998) Virchows Arch , vol.433 , pp. 571-574
- Losi, L.¹ Polito, P.² Hagemeijer, A.³ Buonamici, L.⁴ Van den Berghe, H.⁵ Dal Cin, P.⁶

14
- 0017650310
- The Pallister mosaic syndrome
- (1977) Birth Defects Orig Artic Ser XIII , pp. 103-110
- Pallister, P.D.¹ Meisner, L.F.² Elejalde, B.R.³ Francke, U.⁴ Herrmann, J.⁵ Spranger, J.⁶ Tiddy, W.⁷ Inhorn, S.L.⁸ Opitz, J.M.⁹

15
- 0023267179
- Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome: Report of 11 cases)
- (1987) Am J Med Genet , vol.27 , pp. 257-274
- Reynolds, J.F.¹ Daniel, A.² Kelly, T.E.³ Gollin, S.M.⁴ Stephan, M.J.⁵ Craey, J.⁶ Adkins, W.N.⁷ Webb, M.J.⁸ Char, F.⁹ Jimenez, J.F.¹⁰ Opitz, J.M.¹¹

16
- 0026087355
- Tetrasomy 12p (Pallister-Killian syndrome)
- (1991) J Med Genet , vol.28 , pp. 122-125
- Schinzel, A.¹

17
- 0030982483
- Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue- specific mosaicism and loss of i(12p) by in vitro selection
- (1997) Am J Meal Genet , vol.72 , pp. 106-110
- Schubert, R.¹ Viersbach, R.² Eggermann, T.³ Hansmann, M.⁴ Schwanitz, G.⁵

18
- 0032954313
- Parental origin of the isochromosome 12p in Pallister-Killian syndrome: Molecular analysis of one patient and review of the reported cases
- (1999) Am J Med Genet , vol.84 , pp. 111-115
- Struthers, J.L.¹ Cuthbert, C.D.² Khalifa, M.M.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.