On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS [2]

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 170-172

  Miyake, Noriko ^a,b   Harada, Naoki ^a,b,c   Shimokawa, Osamu ^c   Ohashi, Hirofumi ^d   Kurosawa, Kenji ^e   Matsumoto, Tadashi ^f   Fukushima, Yoshimitsu ^g   Nagai, Toshiro ^h   Shotelersuk, Vorasuk ⁱ   Yoshiura, Ko Ichiro ^a,b   Ohta, Tohma ^b,f   Kishino, Tatsuya ^b,f   Niikawa, Norio ^a,b   Matsumoto, Naomichi ^a,b,j  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f NAGASAKI UNIVERSITY   (Japan)

^g SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ CHULALONGKORN UNIVERSITY   (Thailand)

^j YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASIAN; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KABUKI MAKEUP SYNDROME; LETTER; LOW COPY REPEAT; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 8; FACIES; GENE DUPLICATION; GENETIC MARKERS; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MODELS, GENETIC; MUSCULOSKELETAL ABNORMALITIES; PHENOTYPE; POLYMORPHISM, GENETIC; SKIN ABNORMALITIES; SYNDROME;

EID: 4444235676     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30137     Document Type: Letter

References (5)

1. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome oflong palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
2. Matsumoto N, Niikawa N. 2003. Kabuki make-up syndrome: A review. Am J Med Genet 117C:57-65.
3. Milunsky JM, Huang XL. 2003. Unmasking Kabuki syndrome: chromosome 8p22-p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64:509-516.
4. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
5. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82:238-244.