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