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18q- syndrome and ectodermal dysplasia syndrome: Description of a child and his family

✍ Scribed by Zannolli, R. ;Pierluigi, M. ;Pucci, L. ;Lagrasta, N. ;Gasparre, O. ;Matera, M.R. ;Di Bartolo, R.M. ;Mazzei, M.A. ;Sacco, P. ;Miracco, C. ;de Santi, M.M. ;Aitiani, P. ;Cavani, S. ;Pellegrini, L. ;Fimiani, M. ;Alessandrini, C. ;Galluzzi, P. ;Livi, W. ;Gonnelli, S. ;Terrosi-Vagnoli, P. ;Zappella, M. ;Morgese, G.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 346 KB
Volume: 116A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10069

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✦ Synopsis

Abstract

The 18q‐ syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine‐year‐old boy possessing a simple 18q‐ deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31−qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q‐ deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal. © 2002 Wiley‐Liss, Inc.

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