Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

被引：25
|
作者：
Rudaks, Laura I.
Nicholl, Jillian K. [2 ]
Bratkovic, Drago [1 ]
Barnett, Christopher P. [1 ]
机构：
[1] Womens & Childrens Hosp, SA Clin Genet Serv, Metab Unit, Adelaide, SA 5006, Australia
[2] Womens & Childrens Hosp, Cytogenet Unit, Adelaide, SA 5006, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 12期
关键词：
FACTOR-I RECEPTOR; TERMINAL 15Q26.2-GREATER-THAN-QTER DELETION; DISTAL LONG ARM; RING CHROMOSOME-15; GROWTH-RETARDATION; GIRL; HAPLOINSUFFICIENCY; INTRAUTERINE; FIBROBLASTS; MUTATIONS;
D O I：
10.1002/ajmg.a.34310
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：3139 / 3143
页数：5
相关论文
共 44 条
  • [1] An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature
    Ng, Ivy S. L.
    Chin, Wai-Hoe
    Lim, Eileen C. P.
    Tan, Ene-Choo
    TWIN RESEARCH AND HUMAN GENETICS, 2011, 14 (04) : 333 - 339
  • [2] Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report
    Yoon, Jong Seo
    Hwang, Il Tae
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (02): : 255 - 259
  • [3] SHORT STATURE DUE TO TWO NOVEL HETEROZYGOUS IGF1R MUTATIONS AND RESPONSE TO GH TREATMENT
    Andrade, Anenisia C.
    Gkourogianni, Alexandra
    Segerlund, Emma
    Werner-Sperker, Antje
    Horemuzova, Eva
    Dahlgren, Jovanna
    Nilsson, Ola
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 130 - 131
  • [4] 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
    Yahya Benbouchta
    Nicole De Leeuw
    Saadia Amasdl
    Aziza Sbiti
    Dominique Smeets
    Khalid Sadki
    Abdelaziz Sefiani
    Italian Journal of Pediatrics, 47
  • [5] 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
    Benbouchta, Yahya
    De Leeuw, Nicole
    Amasdl, Saadia
    Sbiti, Aziza
    Smeets, Dominique
    Sadki, Khalid
    Sefiani, Abdelaziz
    ITALIAN JOURNAL OF PEDIATRICS, 2021, 47 (01)
  • [6] 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
    Sivakumaran, Theru A.
    Grebe, Theresa A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (09) : 2392 - 2397
  • [7] DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature
    Ting, Teck Wah
    Brett, Maggie S.
    Cham, Breana W. M.
    Lim, Jiin-Ying
    Law, Hai Yang
    Tan, Ene Choo
    Lai, Angeline H. M.
    Jamuar, Saumya S.
    CLINICAL DYSMORPHOLOGY, 2016, 25 (01) : 37 - 40
  • [8] A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature
    Zhen Chen
    Hong Chen
    Ke Yuan
    Chunlin Wang
    BMC Medical Genomics, 13
  • [9] A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature
    Chen, Zhen
    Chen, Hong
    Yuan, Ke
    Wang, Chunlin
    BMC MEDICAL GENOMICS, 2020, 13 (01)
  • [10] Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15):: Dosage effect of IGF1R?
    Nagai, T
    Shimokawa, O
    Harada, N
    Sakazume, S
    Ohashi, H
    Matsumoto, N
    Obata, K
    Yoshino, A
    Murakami, N
    Murai, T
    Sakuta, R
    Niikawa, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 113 (02): : 173 - 177
12345