A case with Waardenburg syndrome presenting with two separate translocations - one reciprocal and one complex

被引：0
|
作者：
Dundar, M [1 ]
Lowther, G
Colgan, J
Ozkul, Y
Candemir, Z
Saatci, C
Kurtoglu, S
Watt, J
Morrison, N
机构：
[1] Erciyes Univ, Dept Med Genet, TR-38039 Kayseri, Turkey
[2] Erciyes Univ, Dept Pediat, TR-38039 Kayseri, Turkey
[3] Yorkhill Hosp, Duncan Guthrie Inst Med Genet, Glasgow, Lanark, Scotland
来源：
CLINICAL DYSMORPHOLOGY | 2001年 / 10卷 / 01期
关键词：
chromosomal abnormalities; FISH; Waardenburg syndrome;
D O I：
10.1097/00019605-200101000-00014
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 2-month-old Turkish male with Waardenburg syndrome who has two de novo translocations is described. The translocations are a reciprocal translocation between chromosomes 1 and 8, and a more complex translocation involving chromosomes 4 and 7. Clin Dysmorphol 10: 65-66 (C) 2001 Lippincott Williams & Wilkins.
引用
收藏
页码：65 / 66
页数：2
相关论文
共 50 条
  • [1] "Understanding Adam" Multiple Reciprocal Translocations Complex Case Presentation
    Linder, Carie E.
    Lu, Xianglan
    Kim, Young Mi
    Li, Shibo
    Pineda, Jose
    JOURNAL OF PERINATAL & NEONATAL NURSING, 2009, 23 (02) : 150 - 156
  • [2] Waardenburg Syndrome: A Case Study of Two Patients
    Sharma K.
    Arora A.
    Indian Journal of Otolaryngology and Head & Neck Surgery, 2015, 67 (3) : 324 - 328
  • [3] Waardenburg Syndrome: A Case Study of Two Patients
    Sharma, Karan
    Arora, Archana
    INDIAN JOURNAL OF OTOLARYNGOLOGY AND HEAD & NECK SURGERY, 2015, 67 (03) : 324 - 328
  • [4] CAVITATED PNEUMONIA AND TOXIC SHOCK SYNDROME - PRESENTING ONE CASE
    RIERA, JAS
    ASENSIO, JM
    SANCHEZ, DM
    RODRIGUEZ, RF
    FERNANDEZ, RM
    PERPINA, C
    REVISTA CLINICA ESPANOLA, 1990, 186 (09): : 444 - 446
  • [5] Complex reciprocal translocations more complex than initially thought , a case report
    Dufton, Megan
    Bouzayen, Renda
    F&S REPORTS, 2021, 2 (04): : 487 - 492
  • [6] SEMYXOID ADRENOCORTICAL CARCINOMA PRESENTING AS CUSHING SYNDROME:ONE CASE REPORT
    祝宇
    何竑超
    邵琨
    赵菊平
    吴瑜璇
    沈周俊
    MedicalBulletinofShanghaiJiaotongUniversity, 2010, 22 (02) : 102 - 105
  • [7] An unusual case of Lemierre syndrome - One pathogen or two?
    O'Shaughnessy, Michael
    Irizarry, Dariel
    Finkel, Diana
    IDCASES, 2021, 25
  • [8] Waardenburg Syndrome:: Description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
    Pardono, Eliete
    Mazzeu, Juliana F.
    Lezirovitz, Karina
    Auricchio, Maria Teresa B. M.
    Iughetti, Paula
    Nascimento, Rafaella M. P.
    Mingroni-Netto, Regina C.
    Otto, Paulo A.
    GENETICS AND MOLECULAR BIOLOGY, 2006, 29 (04) : 601 - 604
  • [9] Two for the price of one: Unravelling a complex case of resistant hypertension
    Jansen, Pieter M.
    Malasingam, Roshini
    Wood, Simon T.
    Stowasser, Michael
    CLINICAL ENDOCRINOLOGY, 2018, 89 : 87 - 87
  • [10] Two Feet-One Hand Syndrome: A Case Report
    Bjekic, Milan
    ACTA FACULTATIS MEDICAE NAISSENSIS, 2015, 32 (03) : 215 - 219
12345