Advances in Kabuki (KS), Costello (CS), cardio-facio-cutaneous (CFC) Noonan (NS), and Pallister-Killian (PKS) syndromes were among the topics discussed in November at a meeting of the American Society of Human Genetics in Washington, DC. Mutations in the MLL2 gene are responsible for 70% of KS cases, Mark C. Hannibal, MD, PhD, Director of Genetics Education at Seattle Children's Hospital in Seattle, Washington, reported. The syndrome, reported in 400 patients worldwide, is marked by facial characteristics and involvement of the palate, heart, and kidneys, plus intellectual disabilities, according to the National Institutes of Health.
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机译：歌舞at（KS），科斯特洛（CS），心脏面部皮肤（CFC）Noonan（NS）和Pallister-Killian（PKS）综合征的进展是11月在美国人类遗传学会会议上讨论的主题在华盛顿特区。华盛顿西雅图市西雅图儿童医院遗传学教育主任Mark C. Hannibal博士说，MLL2基因突变占KS病例的70％。美国国立卫生研究院（National Institutes of Health）称，该综合征在全球400例患者中得到报道，其特征是面部特征，上颚，心脏和肾脏受累以及智力障碍。
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