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Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
Author(s) -
Engelen John J.M.,
Loneus Wim H.,
VaesPeeters Gerrie,
SchranderStumpel Constance T.R.M.
Publication year - 2004
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.30457
Subject(s) - kabuki syndrome , kabuki , hypotonia , gene duplication , medicine , palpebral fissure , pediatrics , genetics , anatomy , biology , art , visual arts , gene
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.