Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array
- 1 November 2006
- journal article
- case report
- Published by S. Karger AG in Fetal Diagnosis and Therapy
- Vol. 21 (6) , 485-488
- https://doi.org/10.1159/000095658
Abstract
We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy. We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.Keywords
This publication has 15 references indexed in Scilit:
- Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous MiscarriagesAmerican Journal of Human Genetics, 2004
- Clinical, cytogenetic, and molecular observations in a patient with Pallister‐Killian‐syndrome with an unusual karyotypeAmerican Journal of Medical Genetics Part A, 2003
- CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literatureEuropean Journal of Human Genetics, 2003
- Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndromeAmerican Journal of Medical Genetics Part A, 2002
- Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortionsEuropean Journal of Human Genetics, 2001
- Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo‐fetal development anomaliesPrenatal Diagnosis, 2001
- Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridizationClinical Genetics, 1998
- Mosaicism in Pallister i(12p) syndromeAmerican Journal of Medical Genetics, 1990
- Isochromosome 12p mosaicism (Pallister‐Killian syndrome): Newborn diagnosis by direct bone marrow analysisAmerican Journal of Medical Genetics, 1988
- Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 casesAmerican Journal of Medical Genetics, 1987