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Pedigree Analysis

Pedigree Analysis

Genetic Lingo

Genetic Lingo

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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Related Experiment Video

Updated: Jul 3, 2026

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Autosomal dominant isolated question mark ear.

Vered Shkalim¹, Noam Eliaz, Nehama Linder

¹Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

American Journal of Medical Genetics. Part A

|August 6, 2008

Summary

This summary is machine-generated.

Question mark ear is a rare auricular abnormality. This study reports a new family with three affected members, suggesting autosomal dominant inheritance for this condition.

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Area of Science:

Genetics
Otolaryngology
Developmental Biology

Background:

Question mark ear (Cosman) is an auricular abnormality with a characteristic cleft.
It can present with other helix or lobule anomalies and is inherited as an autosomal dominant trait.
Previous reports documented only two families with multiple affected individuals.

Observation:

A female infant presented with bilateral isolated Question mark ear.
Detailed family history revealed the same auricular abnormality in her father and paternal grandfather.
This observation expands the known familial occurrences of Question mark ear.

Findings:

The reported family exhibits a clear pattern of autosomal dominant inheritance for Question mark ear.
The condition in this family appears isolated, without other associated anomalies.
The findings contribute to understanding the phenotypic spectrum and inheritance patterns of Question mark ear.

Implications:

This case expands the known familial occurrences of Question mark ear, supporting autosomal dominant inheritance.
Further research may clarify the genetic basis and phenotypic variability of this auricular abnormality.
Understanding Question mark ear aids in differential diagnosis, particularly concerning auriculo-condylar syndrome (ACS).