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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
Author(s) -
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.,
TerrosiVagnoli P.,
Zappella M.,
Morgese G.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10069
Subject(s) - ectodermal dysplasia , karyotype , biology , microcephaly , tongue , genetics , anatomy , chromosome , medicine , pathology , gene
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.