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

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.

American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199 [Revista revisada por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
Autor: 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.
Materias: 18q‐ syndrome ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Bone and Bones - abnormalities ; Brain - abnormalities ; central nervous system ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 18 - genetics ; Ectodermal Dysplasia - pathology ; ectodermal dysplasia syndrome ; Face - abnormalities ; Family Health ; Female ; Hair - abnormalities ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Skin Abnormalities ; Skull - abnormalities ; Syndrome ; Tooth Abnormalities
Es parte de: American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199
Descripción: 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.
Editor: New York: Wiley Subscription Services, Inc., A Wiley Company
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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family

New York: Wiley Subscription Services, Inc., A Wiley Company

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