Abstract | INTRODUCTION: The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. The microduplication of chromosome 15q21.3 (57,529,846 to 58,949,448) found in our patient with pentalogy of Cantrell has not been described previously. CASE PRESENTATION: We describe a case of a newborn Caucasian male baby with prenatally diagnosed pentalogy of Cantrell and a novel maternally inherited copy number variant detected by chromosome microarray analysis. Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2. CONCLUSION:
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Authors | Matthew B Steiner, Jaime Vengoechea, Ronnie Thomas Collins 2nd |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 7
Pg. 287
(Dec 30 2013)
ISSN: 1752-1947 [Print] England |
PMID | 24377748
(Publication Type: Journal Article)
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