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.

journal_name

Fetal Diagn Ther

authors

Delahaye A,Pipiras E,Delorme-Vincent C,Benkhalifa M,Kasakyan S,Devisme L,Wolf JP,Benzacken B

doi

10.1159/000095658

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

485-8

issue

6

eissn

1015-3837

issn

1421-9964

pii

95658

journal_volume

21

pub_type

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