Year 2017, Volume 5, Issue 2, Pages 27 - 31 2017-08-31

Pallister-Killian Syndrome: A Case Study

İbaa W.F. Yahya [1] , Jalil Ibrahim Alezzi [2] , Hikmet Akbulut [3] , Harun Peru [4]

68 170

Abstract:

Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.

Pallister-Killian Syndrome, Child
  • 1. Nelson pediateri, İnsan genetiği, Bölüm 75 sitogenetik, 76.6 mozaisizim 412
  • 2. Pallister PD, Meisner LF, Elejalde BR, et al. The Pallister mosaic syndrome. Birth Defects 1977;XIH(3B): 103-10.
  • 3. Fryns JP, Petit P, Vinken L, Geutjwns J, Marien J, Van den Berghe H. Mosaic tetrasomy 21 in severe mental handicap. Eur J Pediatr 1982;139: 87-9.
  • 4. Hunter AGW, Clifford B, Speevak M, MacMurray SB. Mosaic tetrasomy 21 in liveborn male infant. Clin Genet 1982;21: 228-32.
  • 5. Kwee ML, Barth PG, Arwert F, Madan K. Mosaic tetrasomy 21 in a male child. Clin Genet 1984;26: 150-5.
  • 6. Harrod MJE, Howard-Peebles PN, Friedman JM. Tetrasomy 12p: differential degree of mosaicism in fibroblasts from normal and abnormally pigmented skin. Proc Greenwood Genet Center 1987;6: 107.
  • 7. Killian W, Teschier-Nicola M. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 1981;7: 6-7.
  • 8. Wenger SL, Steele MW, Yu WD. Risk effect of maternal age in Pallister i(12p) syndrome. Clin Genet 1988;34: 181-4
  • 9. Schinzel A, Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 1991; 28: 122-125
  • 10. Reynolds JF, Daniel A, Kelly TE, et al. Isochromosome 12p mosaicism (Pallis-ter mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am Med Ge-net 1987;27: 257-74.
  • 11. Ward BE, Hayden MW, Robinson A. Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis. AmJ Med Ge-net 1988;31: 835-9.
  • 12. Lin AE, Clemens M, Garver KL, Wenger S. Case of PallisterKillian syndrome with imperforate anus. Am Med Genet 1988;31: 705-7.13. Gilgenkrantz S, Droulle P, Schweitzer M, et al. Mosaic tetrasomy 12p. Clin Ge-net 1985;28: 495-502.
  • 14. Naharara K, Wakita Y, Kikkawa K, et al. Pallister-Killian syndrome: cytogenetic and biochemical studies. Jpn Hum Genet 1988;33: 339-47.
  • 15. Pauli RM, Zeier RA, Sekhon GS. Mosaic isochromosome 12p. Am Med Genet 1987;27: 291-4.
Primary Language en
Subjects Health Care Sciences and Services
Journal Section Case Reports
Authors

Author: İbaa W.F. Yahya (Primary Author)
Country: Turkey


Author: Jalil Ibrahim Alezzi
Institution: Diyala University, College of Medicine, Department of Pediatrics. Baqubah. Iraq
Country: Iraq


Author: Hikmet Akbulut (Primary Author)
Country: Turkey


Author: Harun Peru
Institution: Selçuk Üniversitesi Tıp Fakültesi Çocuk Nefroloji Bilim Dalı
Country: Turkey


Dates

Publication Date: August 31, 2017

Bibtex @case report { pprjournal400066, journal = {Pediatric Practice and Research}, issn = {2147-6470}, address = {Resul YILMAZ}, year = {2017}, volume = {5}, pages = {27 - 31}, doi = {10.21765/pprjournal.400066}, title = {Pallister-Killian Syndrome: A Case Study}, key = {cite}, author = {Yahya, İbaa W.F. and Alezzi, Jalil Ibrahim and Akbulut, Hikmet and Peru, Harun} }
APA Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . (2017). Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research, 5 (2), 27-31. DOI: 10.21765/pprjournal.400066
MLA Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 (2017): 27-31 <http://dergipark.org.tr/pprjournal/issue/38769/400066>
Chicago Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 (2017): 27-31
RIS TY - JOUR T1 - Pallister-Killian Syndrome: A Case Study AU - İbaa W.F. Yahya , Jalil Ibrahim Alezzi , Hikmet Akbulut , Harun Peru Y1 - 2017 PY - 2017 N1 - doi: 10.21765/pprjournal.400066 DO - 10.21765/pprjournal.400066 T2 - Pediatric Practice and Research JF - Journal JO - JOR SP - 27 EP - 31 VL - 5 IS - 2 SN - 2147-6470- M3 - doi: 10.21765/pprjournal.400066 UR - https://doi.org/10.21765/pprjournal.400066 Y2 - 2018 ER -
EndNote %0 Pediatric Practice and Research Pallister-Killian Syndrome: A Case Study %A İbaa W.F. Yahya , Jalil Ibrahim Alezzi , Hikmet Akbulut , Harun Peru %T Pallister-Killian Syndrome: A Case Study %D 2017 %J Pediatric Practice and Research %P 2147-6470- %V 5 %N 2 %R doi: 10.21765/pprjournal.400066 %U 10.21765/pprjournal.400066
ISNAD Yahya, İbaa W.F. , Alezzi, Jalil Ibrahim , Akbulut, Hikmet , Peru, Harun . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 / 2 (August 2017): 27-31. https://doi.org/10.21765/pprjournal.400066
AMA Yahya İ , Alezzi J , Akbulut H , Peru H . Pallister-Killian Syndrome: A Case Study. pediatr pract res. 2017; 5(2): 27-31.
Vancouver Yahya İ , Alezzi J , Akbulut H , Peru H . Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research. 2017; 5(2): 31-27.