Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

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• 作者：Rosamaria Silipigni^a ; ^{rosamariasilipigni@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Elisa Cattaneo^b ; Marco Baccarin^a ; Monica Fumagalli^c ; Maria Francesca Bedeschi^b
• 关键词：Deletion 2p11.2p12 ; CGH array ; Bilateral choanal atresia ; Atrial septal defect ; Developmental delay ; Facial anomalies ; CTNNA2 ; LRRTM1 ; REEP1
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：59
• 期：1
• 页码：39-42
• 全文大小：787 K

文摘

De novo interstitial deletions of the short arm of chromosome 2 are rare chromosomal abnormalities. Patients showing these kind of microdeletions have developmental delay/intellectual disability, minor facial anomalies including high forehead, frontal bossing, broad nasal bridge, abnormal ears and congenital defects such as skeletal and genital malformations. We describe the second child of a healthy and non consanguineous couple presenting at birth multiple malformations and minor facial anomalies. Because of the clinical findings, an array CGH analysis was performed using Agilent 60K microarray oligonucleotide. The analysis detected a 9.3 Mb deletion on the short arm of chromosome 2 at band p11.2p12 spanning the bases 77,946,599-87,277,610. The five patients previously described display a minimal common deleted region which explains the clinical features shared by all of them, while their individual characteristics might be explained by the different sizes of the deletion. The common deleted region involves several genes (CTNNA2, LRRTM1, REEP1), highly expressed in the nervous system. The deletion found in this case overlaps with most of those reported in literature but our patient displays extra clinical signs such as bilateral choanal atresia and atrial septal defect. It was impossible to find any direct correlation between the genes involved in the deletion and the choanal atresia and the heart defect. The question remains open as to whether these clinical features are a consequence of the deletion or are due to a second pathogenic event. Our case emphasizes the difficulties to find a close correlation between a large deletion and a well defined clinical picture. As only five patients with 2p11.2p12 deletions, reported in the literature are characterized by array CGH, further reports will be necessary to well define a clinical phenotype related to the 2p11.2p12 microdeletion.