Literature DB >> 1920372

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

D R McLeod1, L R Wesselman, D I Hoar.   

Abstract

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.

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Year:  1991        PMID： 1920372      PMCID： PMC1016985          DOI： 10.1136/jmg.28.8.541

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Pallister-Killian syndrome--an update of a clinical case.

Authors:  P R Wyatt
Journal:  Am J Med Genet       Date:  1988-01

2.  Prenatal diagnosis of tetrasomy 21.

Authors:  V Lopes; E Mak; P R Wyatt
Journal:  Prenat Diagn       Date:  1985 May-Jun       Impact factor: 3.050

3.  Mosaic isochromosome 12p.

Authors:  R M Pauli; R A Zeier; G S Sekhon
Journal:  Am J Med Genet       Date:  1987-06

4.  Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

Authors:  D Warburton; K Anyane-Yeboa; U Francke
Journal:  Am J Med Genet       Date:  1987-06

5.  "Killian Syndrome", Pallister mosaic syndrome, or mosaic tetrasomy 12P? - an analysis.

Authors:  M L Buyse; B R Korf
Journal:  J Clin Dysmorphol       Date:  1983

6.  Abnormal hair, craniofacial dysmorphism, and severe mental retardation - a new syndrome?

Authors:  W Killian; J Zonana; R J Schroer
Journal:  J Clin Dysmorphol       Date:  1983

7.  Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

Authors:  J F Reynolds; A Daniel; T E Kelly; S M Gollin; M J Stephan; J Carey; W N Adkins; M J Webb; F Char; J F Jimenez
Journal:  Am J Med Genet       Date:  1987-06

8.  The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.

Authors:  P Moerman; J P Fryns; K Vandenberghe; H Devlieger; J M Lauweryns
Journal:  Am J Med Genet       Date:  1988-12

9.  The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome.

Authors:  A G Hunter; B Clifford; D M Cox
Journal:  Clin Genet       Date:  1985-07       Impact factor: 4.438
  9 in total
  1 in total

1.  An Indian boy with additional features in Pallister-Killian syndrome.

Authors:  Krati Shah; Renu George; Evangelynn Singh Balla; Samuel P Oommen; Caroline S Padankatti; Vivi M Srivastava; Sumita Danda
Journal:  Indian J Pediatr       Date:  2011-10-20       Impact factor: 1.967
  1 in total

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