Pallister-Killian syndrome presenting through nuchal oedema: Cytogenetic investigation and parental origin by molecular analysis in a new case [2]

Prenatal Diagnosis

Volumn 24, Issue 3, 2004, Pages 229-230

  Vimercati, Antonella ^a   Pantaleo, Greco ^b   Irma, Croce Anna ^c   Savino, Calvano ^c   Selvaggi, Luigi ^a  

^a UNIVERSITY OF BARI   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNION FLUID CYTOLOGY; AUTOPSY; CASE REPORT; FEMALE; FETUS; FETUS ECHOGRAPHY; HUMAN; HUMAN TISSUE; KARYOTYPING; LETTER; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL;

EID: 1842533095     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.806     Document Type: Letter

References (6)

1. Bergoffen J, Punnet H, Tamberly J, et al. 1993. Diaphragmatic hernia in tetrasomy 12p mosaicism. J Pediatr 122(4): 603-606.
2. Bielanska MM, Khalifa MM, Duncan AMV. 1996. Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genetic 65: 104-108.
3. Doray B, Girard-Lemaire F, Gasser B, et al. 2002. Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 22: 470-477.
4. 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.
5. Reynolds JF, Daniel A, Kelly TE, et al. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuplody or Pallister-Killian syndrome). Report of 11 cases. Am J Med Genet 27: 257-274.
6. Struthers L, Cuthbert CD, Khalifa MM. 1999. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Am J Med Genet 84(2): 111-115.