Isodicentric Chromosome 15 Syndrome in a Korean Patient With Cafe-au-lait Spots

被引：0
|
作者：
Rim, John Hoon [1 ]
Chung, Hee Jung [2 ]
Shin, Saeam [1 ]
Park, Seo-Jin [1 ]
Choi, Jong Rak [1 ]
机构：
[1] Yonsei Univ, Coll Med, Dept Lab Med, Severance Hosp, Seoul 120752, South Korea
[2] Yonsei Univ, Coll Med, Dept Pediat, Severance Hosp, Seoul 120752, South Korea
来源：
ANNALS OF LABORATORY MEDICINE | 2015年 / 35卷 / 04期
关键词：
DUPLICATION; 15Q;
D O I：
10.3343/alm.2015.35.4.474
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：474 / 476
页数：3
相关论文
共 50 条
  • [31] NOONAN SYNDROME WITH CAFE-AU-LAIT SPOTS AND MULTIPLE LENTIGINES SYNDROME ARE NOT LINKED TO THE NEUROFIBROMATOSIS TYPE-1 LOCUS
    AHLBOM, BE
    DAHL, N
    ZETTERQVIST, P
    ANNEREN, G
    [J]. CLINICAL GENETICS, 1995, 48 (02) : 85 - 89
  • [32] Divided cafe-au-lait macule of the mouth
    Sergay, Amanda
    Silverberg, Nanette B.
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2007, 56 (05) : S98 - S99
  • [33] The diagnostic value of cafe-au-lait macules
    Landau, M
    Krafchik, BR
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1999, 40 (06) : 877 - 890
  • [34] A model for the emergence of cafe-au-lait macules
    Kestler, HA
    Haschka, M
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 113 (05) : 858 - 859
  • [35] PRIMARY OSTEOMA CUTIS - MULTIPLE CAFE-AU-LAIT SPOTS AND WOOLLY HAIR ANOMALY
    RUGGIERI, M
    PAVONE, V
    SMILARI, P
    RIZZO, R
    SORGE, G
    [J]. PEDIATRIC RADIOLOGY, 1995, 25 (01) : 34 - 36
  • [36] Prevalence of hypopigmented maculae and cafe-au-lait spots in idiopathic epileptic and healthy children
    Karabiber, H
    Sasmaz, S
    Turanli, G
    Yakinci, C
    [J]. JOURNAL OF CHILD NEUROLOGY, 2002, 17 (01) : 57 - 59
  • [37] STUDIES ON CAFE-AU-LAIT SPOTS IN NEUROFIBROMATOSIS AND PIGMENTED MACULES OF NEVUS-SPILUS
    TAKAHASHI, M
    [J]. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1976, 118 (03): : 255 - 273
  • [38] A severe form of Noonan syndrome and autosomal dominant cafE-au-lait spots - evidence for different genetic origins
    Nystrom, Anna-Maja
    Ekvall, Sara
    Stromberg, Bo
    Holmstrom, Gerd
    Thuresson, Ann-Charlotte
    Anneren, Goran
    Bondeson, Marie-Louise
    [J]. ACTA PAEDIATRICA, 2009, 98 (04) : 693 - 698
  • [39] Multiple cafe au lait spots
    Madson, Justin
    Garcia, Carlos
    Clapper, Rachel
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2012, 66 (04) : AB95 - AB95
  • [40] FLECKED RETINA ASSOCIATED WITH CAFE-AU-LAIT SPOTS, MICROCEPHALY, EPILEPSY, SHORT STATURE, AND RING-17 CHROMOSOME
    GASS, JDM
    TANEY, BS
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1994, 112 (06) : 738 - 739
12345