Skip to main content

Advertisement

SpringerLink
Log in

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

  • Case Report
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

We report a rare case of Pallister-Killian syndrome diagnosed prenatally with increased nuchal translucency during screening for trisomy 21.

Materials and methods

Echografic and postmortem examination of the fetus, G-banded chromosome and FISH analysis on short- and long-term chorion villous sampling (CVS) culture.

Results and discussion

Cytogenetic analysis revealed a supernumerary isochromosome 12p after long-term culture whereas a normal cell line was detected in short-term culture only. Sonografic examination in 17-weeks’ gestation showed further increase of the NT and the additional presence of brachymelia, diaphragmatic hernia and a marked dextroposition of the heart. Termination of the pregnancy was performed. The cases of PKS karyotypically confirmed on CVS are reviewed, and cytogenetic and sonographic aspects of the prenatal diagnosis of PKS are discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. Abad DE, Gabarre JA, Izquierdo AM, López-Sánchez C, García-Martínez V, Izquierdo AG (2006) Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency. J Ultrasound Med 25:1475–1480

    PubMed  Google Scholar 

  2. 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 140:2757–2767. doi:10.1002/ajmg.a.31539

    Article  PubMed  Google Scholar 

  3. Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann PD, Rehder H, Waldenmaier C, Zoll B (1992) Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS. Am J Med Genet 42:747–750. doi:10.1002/ajmg.1320420525

    Article  CAS  PubMed  Google Scholar 

  4. Boyle AH, Kulkarni R, Smoleniec JS, Davies T, McDermott A (1993) Prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling—its diagnostic problems. Prenat Diagn 13:1160–1161. doi:10.1002/pd.1970131215

    Article  CAS  PubMed  Google Scholar 

  5. Bresson JL, Arbez-Gindre F, Peltie J, Gouget A (1991) Pallister Killian–mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case. Prenat Diagn 11:271–275. doi:10.1002/pd.1970110409

    Article  CAS  PubMed  Google Scholar 

  6. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR (2007) Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet 143:1679–1686. doi:10.1002/ajmg.a.31740

    Article  Google Scholar 

  7. Chiesa J, Hoffet M, Rousseau O, Bourgeois JM, Sarda P, Mares P, Bureau JP (1998) Pallister-Killian syndrome [i(12p)]: first prenatal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clin Genet 54:294–302. doi:10.1034/j.1399-0004.1998.5440406.x

    Article  CAS  PubMed  Google Scholar 

  8. de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR (2004) Post-zygotic origin of isochromosome 12p. Prenat Diagn 24:984–988. doi:10.1002/pd.956

    Article  PubMed  CAS  Google Scholar 

  9. Dong L, Falk RE, Williams J 3rd, Kohan M, Schreck RR (2003) Tetrasomy 12p—unusual presentation in CVS. Prenat Diagn 23:101–103. doi:10.1002/pd.538

    Article  CAS  PubMed  Google Scholar 

  10. Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, De Geeter B, Spizzo M, Zeidan C, Flori E (2002) Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 22:470–477. doi:10.1002/pd.342

    Article  PubMed  Google Scholar 

  11. Gilgenkrantz S, Droulle P, Schweitzer M, Foliguet B, Chadefaux B, Lombard M, Chery M, Prieur M (1985) Mosaic tetrasomy 12p. Clin Genet 28:495–502

    Article  CAS  PubMed  Google Scholar 

  12. Horn D, Majewski F, Hildebrandt B, Korner H (1995) 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. J Med Genet 32:68–71. doi:10.1136/jmg.32.1.68

    Article  CAS  PubMed  Google Scholar 

  13. Kim MH, Park SY, Kim MY, Lee BY, Lee MH, Ryu HM (2008) Prenatal diagnosis of Pallister-Killian syndrome in two fetuses with increased nuchal translucency. Prenat Diagn 28:454–456. doi:10.1002/pd.1974

    Article  PubMed  Google Scholar 

  14. Langford K, Hodgson S, Seller M, Maxwell D (2000) Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21. Prenat Diagn 20:670–672. doi:10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U

    Article  CAS  PubMed  Google Scholar 

  15. Leube B, Majewski F, Gebauer J, Royer-Pokora B (2003) Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet 123:296–300. doi:10.1002/ajmg.a.20339

    Article  Google Scholar 

  16. Liberati M, Melchiorre K, D’Emilio I, Guanciali-Franchi PE, Iezzi I, Rotmensch S, Celentano C (2008) Fetal facial profile in Pallister-Killian syndrome. Fetal Diagn Ther 23:15–17. doi:10.1159/000109220

    Article  PubMed  Google Scholar 

  17. Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Hogge WA (1997) The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome. Prenat Diagn 17:255–265. doi:10.1002/(SICI)1097-0223(199703)17:3<255::AID-PD49>3.0.CO;2-T

    Article  CAS  PubMed  Google Scholar 

  18. Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C (2000) Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile. Prenat Diagn 20:996–998. doi:10.1002/1097-0223(200012)20:12<996::AID-PD951>3.0.CO;2-0

    Article  CAS  PubMed  Google Scholar 

  19. Sharland M, Hill L, Patel R, Patton M (1991) Pallister-Killian syndrome diagnosed by chorionic villus sampling. Prenat Diagn 11:477–479. doi:10.1002/pd.1970110712

    Article  CAS  PubMed  Google Scholar 

  20. Stalker HJ, Gray BA, Bent-Williams A, Zori RT (2006) High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am J Med Genet 140:1950–1954. doi:10.1002/ajmg.a.31403

    Article  PubMed  Google Scholar 

Download references

Conflict of interest statement

None.

Author information

Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Giessen-Marburg, Bahnhofstr. 7, 35037, Marburg, Germany

    J. Kunz & Barbara Fritz

  2. Institut für Pathologie, Universitätsklinikum Giessen und Marburg, Marburg, Germany

    K. Schoner

  3. Klinik für Geburtshilfe und Perinatalmedizin, Universitätsklinikum Giessen und Marburg, Marburg, Germany

    W. Stein

  4. Department für Medizinische Genetik, Medizinische Universität Wien, Vienna, Austria

    H. Rehder

  5. Humangenetische Apparategemeinschaft, Schönhauser Allee 118, 10437, Berlin, Germany

    J. Kunz

Authors
  1. J. Kunz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Schoner
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. Stein
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. Rehder
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Barbara Fritz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Barbara Fritz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kunz, J., Schoner, K., Stein, W. et al. Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis. Arch Gynecol Obstet 280, 1049–1053 (2009). https://doi.org/10.1007/s00404-009-1059-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00404-009-1059-3

Keywords

Search

Navigation