On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

被引：24

作者：

Miyake, N

Harada, N

Shimokawa, O

Ohashi, H

Kurosawa, K

Matsumoto, T

Fukushima, Y

Nagai, T

Shotelersuk, V

Yoshiura, K

Ohta, T

Kishino, T

Niikawa, N

Matsumoto, N

机构：

[1] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

[2] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan

[3] Nagasaki Univ, Grad Sch Biomed Sci, Dept Pediat, Nagasaki 852, Japan

[4] Japan Sci & Technol Agcy, CREST, Kawaguchi, Japan

[5] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan

[6] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[7] Nagasaki Univ, Sch Hlth Sci, Dept Nursing, Nagasaki 852, Japan

[8] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan

[9] Dokkyo Univ, Koshigaya Hosp, Sch Med, Dept Pediat, Koshigaya, Japan

[10] Chulalongkorn Univ & Hosp, Fac Med, Dept Pediat, Bangkok, Thailand

[11] Nagasaki Univ, Ctr Frontier Life Sci, Div Funct Genom, Nagasaki 852, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 128A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.30137

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：170 / 172

页数：3

共 5 条

[1] A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION [J].

KUROKI, Y ;

SUZUKI, Y ;

CHYO, H ;

HATA, A ;

MATSUI, I .

JOURNAL OF PEDIATRICS, 1981, 99 (04) :570-573

[2] Kabuki make-up syndrome: A review [J].

Matsumoto, N ;

Niikawa, N .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 117C (01) :57-65

[3] Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH [J].

Milunsky, JM ;

Huang, XL .

CLINICAL GENETICS, 2003, 64 (06) :509-516

[4] KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY [J].

NIIKAWA, N ;

MATSUURA, N ;

FUKUSHIMA, Y ;

OHSAWA, T ;

KAJII, T .

JOURNAL OF PEDIATRICS, 1981, 99 (04) :565-569

[5] Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23 [J].

Sugawara, H ;

Harada, N ;

Ida, T ;

Ishida, T ;

Ledbetter, DH ;

Yoshiura, KI ;

Ohta, T ;

Kishino, T ;

Niikawa, N ;

Matsumoto, N .

GENOMICS, 2003, 82 (02) :238-244

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