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Pedigree Analysis

Pedigree Analysis

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

X and Y Chromosomes

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...

The Ratio of X Chromosome to Autosomes

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...

Sex Linked Disorders

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.

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 sister...

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Updated: Jun 24, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

[True hermaphroditism and sequences. Diagnostic implications regarding two cases].

José de Jesús Toscano-Flores¹, Jorge Padilla-Gutiérrez, Luis Becerra-Solano

¹Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara.

Revista Medica Del Instituto Mexicano Del Seguro Social

|February 27, 2009

Summary

This summary is machine-generated.

True hermaphroditism, a disorder of sexual differentiation, presents a higher risk for gonad cancer. Molecular detection of Y chromosome sequences aids in managing this condition and identifying at-risk individuals.

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Published on: October 20, 2019

Area of Science:

Reproductive biology
Genetics
Endocrinology

Background:

True hermaphroditism involves the presence of both ovarian and testicular tissue, increasing the risk of gonadoblastoma.
Effective diagnostic and surgical interventions are crucial for managing true hermaphroditism, preventing cancer, and addressing sex assignment issues.

Observation:

This study presents two cases of true hermaphroditism with 46,XX karyotype.
Both patients exhibited positive polymorphic regions on the Y chromosome, confirmed by molecular detection.

Findings:

Molecular detection of Y chromosome sequences is a rapid, non-invasive method for exploring cell lines.
This technique complements traditional cytogenetic analysis in diagnosing disorders of sexual differentiation.

Implications:

Streamlining the management of sexual differentiation disorders through molecular Y chromosome detection.
Early identification of individuals with true hermaphroditism and elevated gonad cancer risk.
Facilitating timely medical and surgical interventions for improved patient outcomes.