Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients

Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recentl...

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Published inAmerican journal of medical genetics. Part A Vol. 132A; no. 3; pp. 276 - 277
Main Authors Engelen, John J.M., Loneus, Wim H., Vaes-Peeters, Gerrie, Schrander-Stumpel, Constance T.R.M.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 30.01.2005
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ISSN1552-4825
1552-4833
DOI10.1002/ajmg.a.30457

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Summary:Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recently, Milunsky and Huang [2003], reported an 8p duplication at chromosome 8p22‐8p23.1 in 6 patients with Kabuki syndrome. We studied 20 individuals with Kabuki syndrome and were not able to confirm this finding. Kabuki syndrome remains a clinical diagnosis in the majority of cases. © 2004 Wiley‐Liss, Inc.
Bibliography:ark:/67375/WNG-8GLX8WNB-S
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ArticleID:AJMG30457
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30457