De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. Issue 6 (18th April 2014)

• Record Type: Journal Article
• Authors: Goumy, Carole; Gay‐Bellile, Mathilde; Eymard‐Pierre, Eléonore; Kemeny, Stephan; Gouas, Laetitia; Déchelotte, Pierre; Gallot, Denis; Véronèse, Lauren; Tchirkov, Andrei; Pebrel‐Richard, Céline; Vago, Philippe
• Is Part Of: Birth defects research. Volume 100:Issue 6(2014:Jun.)
• Page Start: 507
• Page End: 511
• Publication Date: 2014-04-18
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23246
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23246-sec-1000" sec-type="section"> <title>Background</title> <p>Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array‐CGH. This is the first case diagnosed prenatally.</p> </sec> <sec id="bdra23246-sec-1001" sec-type="section"> <title>Methods</title> <p>We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deletion in a fetus with facial dysmorphism, spina bifida, and cleft palate.</p> </sec> <sec id="bdra23246-sec-1002" sec-type="section"> <title>Results</title> <p>Array‐CGH analysis revealed a 5.6 Mb interstitial deletion of the long arm of chromosome 2q36.1q36.3, including the <italic>PAX3</italic> and <italic>EPHA4</italic> genes.</p> </sec> <sec id="bdra23246-sec-1003" sec-type="section"> <title>Conclusion</title> <p>The present study reinforces the hypothesis that <italic>PAX3</italic> haploinsufficiency may be associated with neural tube defects in humans and suggests that the <italic>EPHA4</italic> gene might be implicated during palate development. This report also illustrates the added value of array‐CGH to detect cryptic chromosomal imbalances in malformed fetuses and to improve genetic counseling prenatally. <italic>Birth Defects Research (Part A) 100:507–511, 2014</italic>. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>