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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.

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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).
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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”.

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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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Fraser syndrome in three consecutive siblings.

Kaarthigeyan Kalaniti¹, V Sandhya

¹Department of Pediatrics and Neonatal Medicine, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India.

Oman Journal of Ophthalmology

|September 8, 2011

Summary

This summary is machine-generated.

Fraser syndrome (FS) is a rare genetic disorder causing facial and genital abnormalities. This report details a newborn and siblings exhibiting congenital anomalies indicative of Fraser syndrome.

Keywords:

Fraser/cryptophthalmos syndrome recurrence renal agenesis unicornuate uterus

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Area of Science:

Genetics
Pediatrics
Medical Genetics

Background:

Fraser syndrome (FS) is a rare autosomal recessive disorder.
It is characterized by a specific set of congenital anomalies.
Key features include craniofacial dysmorphism, limb malformations, and genitourinary abnormalities, sometimes with cryptophthalmos.

Observation:

This report describes a familial cluster of Fraser syndrome.
A newborn and two elder siblings presented with multiple congenital anomalies.
Clinical and radiological findings were consistent with the diagnostic criteria for Fraser syndrome.

Findings:

The affected siblings demonstrated features indicative of Fraser syndrome.
The presentation highlights the genetic basis and variable expressivity of FS within a family.
Detailed clinico-radiological data support the diagnosis.

Implications:

Early diagnosis and genetic counseling are crucial for families with Fraser syndrome.
Understanding the genetic underpinnings of FS can aid in developing targeted interventions.
This case series contributes to the literature on familial Fraser syndrome, aiding future research and clinical management.