In:
Fetal Diagnosis and Therapy, S. Karger AG, Vol. 21, No. 6 ( 2006), p. 485-488
Abstract:
〈 i 〉 Objective and Methods: 〈 /i 〉 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. 〈 i 〉 Conclusion: 〈 /i 〉 We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.
Type of Medium:
Online Resource
ISSN:
1015-3837
,
1421-9964
Language:
English
Publisher:
S. Karger AG
Publication Date:
2006
detail.hit.zdb_id:
1482292-1