Related Experiment Video

Updated: May 10, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.5K

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report

Gabriela Corassa Rodrigues da Cunha1,2,3, Vanessa Sodré de Souza1,2,3, Marcus Von Zuben4

  • 1Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-graduação em Ciências da Saúde, Brasília, DF, Brazil.

Global Medical Genetics
|April 25, 2025
PubMed
Summary

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is linked to a 7q11.23 microduplication in a rare case. This finding suggests a potential new genetic cause for MRKHS.

Keywords:
7q11.23 microduplicationMRKHSMayer-Rokitansky-Küster-Hauser SyndromeMüllerian aplasia

More Related Videos

FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.7K
Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome11:53

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome

Published on: May 10, 2022

3.4K

Related Concept Videos

Karyotyping01:17

Karyotyping

Overview
55.3K
Meiosis I01:49

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...
191.6K
Genomic Imprinting and Inheritance02:30

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...
32.8K
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.1K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
98.1K
Centrosome Duplication02:25

Centrosome Duplication

The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
3.8K