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Pallister-Killian Syndrome: A Case Study

Yıl 2017, Cilt 5, Sayı 2, 27 - 31, 31.08.2017
https://doi.org/10.21765/pprjournal.400066

Öz

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.

Kaynakça

  • 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.

Yıl 2017, Cilt 5, Sayı 2, 27 - 31, 31.08.2017
https://doi.org/10.21765/pprjournal.400066

Öz

Kaynakça

  • 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.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Bilimleri ve Hizmetleri
Bölüm Olgu Sunusu
Yazarlar

İbaa W.f. YAHYA> (Sorumlu Yazar)

Türkiye


Jalil İbrahim ALEZZİ>
Diyala University, College of Medicine, Department of Pediatrics. Baqubah. Iraq
0000-0002-7541-4852
Iraq


Hikmet AKBULUT> (Sorumlu Yazar)

Türkiye


Harun PERU>
Selçuk Üniversitesi Tıp Fakültesi Çocuk Nefroloji Bilim Dalı
Türkiye

Yayımlanma Tarihi 31 Ağustos 2017
Kabul Tarihi 27 Ağustos 2018
Yayınlandığı Sayı Yıl 2017, Cilt 5, Sayı 2

Kaynak Göster

Vancouver Yahya İ. W. , Alezzi J. İ. , Akbulut H. , Peru H. Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research. 2017; 5(2): 27-31.