相关实验视频

Updated: May 31, 2025

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

双胞胎:一个有趣的演示

Y Denkboy Ongen¹, A Parlak², E Eren¹

¹Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.

Acta endocrinologica (Bucharest, Romania : 2005)

|January 23, 2025

概括

这项研究报告了特纳双胞胎在手术期间被诊断患有罕见的性别染色体异常. 这些病例突出了特纳综合征的不寻常表现,包括在囊中发现的双边子宫和卵巢.

科学领域:

遗传学遗传学是一个
生殖医学生殖医学
儿科手术儿科手术

背景情况:

特纳综合征是一种性染色体异常,影响1:2000-2500个活生生的雌性,通常呈现出矮身和延迟的青春期.
纳综合征的非典型表现可能会发生,需要更广泛的诊断考虑.
在 inguinal 囊中识别生殖器官是一个不常见的发现.

研究的目的:

报告一个独特的特纳双胞胎病例,具有罕见的遗传构成.
描述在 inguinal 的修复过程中意外的手术内发现.
为了解特纳综合征的非典型表现作出贡献.

主要方法:

病例报告详细说明了特纳双胞胎的诊断和治疗方法.
在 inguinal hernia 手术期间的手术内发现.
型定型以确定特定的遗传异常.

主要成果:

特纳双胞胎在 inguinal 手术期间被诊断出.
双边子宫和卵巢在双胞胎的囊中被确定.
这些病例代表了第一个具有异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,i(X) 异染色体Xq (46,X,q10;q10;q10;q2[8]).

结论:

这一案例凸显了考虑特纳综合征非典型表现的重要性.
这些发现强调了性别染色体异常的表型表达的变化.
成功的手术管理和遗传表征为罕见的遗传疾病提供了宝贵的见解.

关键词:

异质细胞单胞胎双胞胎异质细胞双胞胎.一条纹卵巢的卵巢图纳综合征是特纳综合征的一种症状.不一致的基因型.inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia inguinal hernia 同染色体 Xqq 的同染色体.

更多相关视频

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

Model Surgical Training: Skills Acquisition in Fetoscopic Laser Photocoagulation of Monochorionic Diamniotic Twin Placenta Using Realistic Simulators

Model Surgical Training: Skills Acquisition in Fetoscopic Laser Photocoagulation of Monochorionic Diamniotic Twin Placenta Using Realistic Simulators

Published on: March 21, 2018

相关概念视频

Meiosis vs. Mitosis

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...

Trihybrid Crosses

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
The F1 generation plants of a trihybrid cross are heterozygous for all three traits and produce eight gametes. Upon self-fertilization, these gametes have an equal...

Crossing Over

Crossing Over

Unlike mitosis, meiosis aims for genetic diversity in its creation of haploid gametes. Dividing germ cells first begin this process in prophase I, where each chromosome—replicated in S phase—is now composed of two sister chromatids (identical copies) joined centrally.
The homologous pairs of sister chromosomes—one from the maternal and one from the paternal genome—then begin to align alongside each other lengthwise, matching corresponding DNA positions in a process...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...