MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY

Milenkovic T; Guc Scekic M; Zdravkovic D; Topic V; Liehr T; Joksic G; Radivojevic D; Lakic N

首页> 外文期刊>Balkan journal of medical genetics: BJMG >MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY

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MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY

机译：混合性腺功能不全和生长激素缺乏症的10岁男孩中Y环染色体的分子分析

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Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of cells monosomic for the X-chromosome, but also by the presence of severe GH deficiency. The ring Y chromosome in our patient is a de novo structural aberration. The father's karyotype was normal.

机译：Y环染色体是非常罕见的染色体畸变。具有环Y染色体的已公布的混合性腺发育不全（MGD）患者身材矮小，但并非缺乏生长激素（GH）。我们介绍了MGD的一个10岁男孩的环Y染色体镶嵌的分子细胞遗传学和分子表征，其身材矮小可以通过X染色体的单体细胞比例高来解释，也可以通过严重GH的存在来解释不足。我们患者中的Y环染色体是从头结构异常。父亲的核型正常。

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《Balkan journal of medical genetics: BJMG》 |2011年第2期|共6页
作者
Milenkovic T; Guc Scekic M; Zdravkovic D; Topic V; Liehr T; Joksic G; Radivojevic D; Lakic N;
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正文语种 eng
中图分类遗传学;
关键词
Growth hormone (GH) deficiency; Mixed gonadal dysgenesis (MGD); Mosaicism; Ring Y chromosome.;

机译：生长激素（GH）缺乏;混合性腺发育不全（MGD）;马赛克;环Y染色体。;

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1. MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY [J] . Milenkovic T, Guc Scekic M, Zdravkovic D, Balkan journal of medical genetics: BJMG . 2011,第2期

机译：混合性腺功能不全和生长激素缺乏症的10岁男孩中Y环染色体的分子分析
2. Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency [J] . D Radivojevic, D Zdravkovic, G Joksic, Balkan journal of medical genetics: BJMG . 2011,第2期

机译：混合性腺发育不全和生长激素缺乏症的10岁男孩环Y染色体的分子分析。
3. Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient [J] . Silvano Bertelloni, Eleonora Dati, Angelo Valetto, Hormones: International Journal of Endocrinology and Metabolism . 2015,第1期

机译：45，X / 46，X，idic（Yp）混合性腺发育不全的男孩的长期生长激素治疗：与未治疗患者的生长方式比较
4. COMPARISON OF GROWTH HORMONE SECRETION PATTERNS IN CHILDREN WITH AND WITHOUT HORMONAL DEFICIENCY [C] . R.C. Hermida, L. Garcfa, D.E. Ayala 1995 IEEE engineering in medicine and biology 17th annual conference and 21st Canadian medical and biological engineering conference . 1997

机译：有和没有荷尔蒙缺乏症的儿童生长激素分泌型态的比较
5. Development and testing of gene expression biomarkers for gonadal dysgenesis in conjunction with the US EPA Endocrine Disruptor Screening Program's Tier 2 Larval Amphibian Growth and Development Assay. [D] . Haselman, Jonathan T. 2014

机译：结合美国EPA内分泌干扰物筛查计划的方法2幼虫两栖动物生长发育测定法，开发和测试用于性腺发育不全的基因表达生物标记。
6. Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency [O] . T Milenkovic, M Guc-Scekic, D Zdravkovic, 2011

机译：混合性腺发育不全和生长激素缺乏症的10岁男孩环Y染色体的分子分析。
7. Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient [O] . Silvano Bertelloni, Eleonora Dati, Angelo Valetto, 2002

机译：在45，x / 46，x，idic（yp）混合性腺功能因子的男孩中长期生长激素治疗：与未经治疗的患者的生长模式进行比较

MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY

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