Retrospective diagnosis of Pallister-Killian syndrome by CGH array.

Abstract

OBJECTIVE AND METHODS:

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.

CONCLUSION:

We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.

• Authors: Andrée Delahaye, Eva Pipiras, Catherine Delorme-Vincent, Moncef Benkhalifa, Serdar Kasakyan, Louise Devisme, Jean-Philippe Wolf, Brigitte Benzacken
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) Vol. 21 Issue 6 Pg. 485-8 ( 2006) ISSN: 1015-3837 [Print] Switzerland
• PMID: 16969000 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics, mortality)
• Aneuploidy
• Chromosomes, Human, Pair 12
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Mosaicism
• Oligonucleotide Array Sequence Analysis
• Syndrome