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What does cortical defect mean in medical terms?
A cortical defect is an abnormality in the outer shell.
What kind of defect is CGD?
recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease
What is a chromosomal defect?
A abnormality in the size, shape, or number of chromosomes.
What connection does heredity have with Meckel's diverticulum?
Meckel's diverticulum is not hereditary. It is a vestigial remnant of the omphalomesenteric duct, an embryonic structure that becomes the intestine. As such, there is no genetic defect or abnormality.
What does underlying pathologic defect mean?
An underlying pathologic defect refers to a fundamental abnormality or dysfunction in the body's structure or function that contributes to a disease or health condition. This defect can be genetic, developmental, or acquired, and it often sets the stage for the manifestation of symptoms or complications. Identifying the underlying defect is crucial for diagnosis and treatment, as it helps healthcare providers target the root cause rather than just addressing the symptoms.
What is the chromosomal defect that causes Prader Willi?
its when seven genes chromosome 15 are missing or ununexpressed on the paternal chromosome.
If an underdeveloped nose is detected at the seventeen week scan does this mean definite birth abnormality or defect?
Not neccessarily.
What allows a physician to detect a valve defect?
you listen with a stethoscope and with experience you can discover a valve abnormality as they are audible
Defect on chromosome 21 where a third chromosome is present what is this defect called?
The defect of having a third chromosome 21 is known as Trisomy 21, which causes Down syndrome. This genetic condition leads to intellectual disabilities, characteristic facial features, and an increased risk of certain health issues.
Which chromosomal defect is caused when part of a chromosome breaks off at either end and attaches to another chromosome?
The chromosomal defect you are describing is known as a translocation. In a translocation, a segment of one chromosome breaks off and is reattached to a different chromosome, which can lead to genetic imbalances and various genetic disorders. This type of defect can occur in both somatic cells and germ cells and is often associated with certain cancers and congenital conditions.
Is hemophilia a defect?
Hemophilia is a genetic mutation of the sex-linked X chromosome.
What does syndrome mean?
This is a birth defect. A person born with this has an extra chromosome 21.
