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Pedigree Analysis

Pedigree Analysis

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.

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...

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.

Karyotyping

Karyotyping

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Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo

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Syndactyly: phenotypes, genetics and current classification.

¹Human Genetics Program, Department of Animal Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan. malik@qau.edu.pk

European Journal of Human Genetics : EJHG

|February 16, 2012

Summary

This summary is machine-generated.

Syndactyly, a common hereditary limb malformation involving fused digits, presents diverse phenotypes and inheritance patterns. This study reviews current classifications and highlights unanswered questions in its molecular basis.

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Syndactyly is a frequent hereditary limb malformation characterized by fused fingers or toes.
It can manifest as an isolated condition or part of over 300 syndromic anomalies.
Syndactyly displays significant clinical variability, both between and within families, and even unilaterally within an individual.

Purpose of the Study:

To present a current classification scheme for isolated syndactylies.
To review cardinal phenotypes, inheritance patterns, and genetic heterogeneity of syndactyly.
To identify knowledge gaps in the etiology and molecular basis of syndactyly.

Main Methods:

Literature review of well-characterized isolated syndactylies.
Analysis of clinical and genetic data from existing studies.
Synthesis of information to propose a classification scheme.

Main Results:

At least nine distinct non-syndromic syndactyly types have been identified.
Most syndactyly types follow autosomal dominant inheritance, with exceptions including autosomal recessive and X-linked recessive forms.
Genetic underpinnings are known for specific types (II-1, III, IV, V, VII), but remain elusive for others.

Conclusions:

A comprehensive classification of isolated syndactylies is proposed based on current knowledge.
Despite advances, fundamental questions regarding the developmental mechanisms causing digit fusion persist.
Further research is needed to elucidate the molecular etiology of syndactyly types with unknown genetic bases.