Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?

Abstract:

:Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p. A similar anomaly described in a postnatal patient suggests ring chromosome as a possible cause of PKS. Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH.

journal_name

Fetal Diagn Ther

authors

Lloveras E,Canellas A,Cirigliano V,Català V,Cerdan C,Plaja A

doi

10.1159/000347049

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

172-5

issue

3

eissn

1015-3837

issn

1421-9964

pii

000347049

journal_volume

34

pub_type

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