What does it mean if a karyotype is 47 XXY?
Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning.
Is Klinefelter syndrome trisomy?
Klinefelter syndrome (KS), also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Often, symptoms are subtle and subjects do not realize they are affected.
Is 47 chromosomes a trisomy?
A trisomy is a chromosomal condition characterised by an additional chromosome. A person with a trisomy has 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
What is 48 XXY chromosome disorder?
48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
What is XXY gender?
Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). The X chromosome is not a “female” chromosome and is present in everyone. The presence of a Y chromosome denotes male sex.
Is XYY syndrome monosomy or trisomy?
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
|Symptoms||Being taller than average, acne, learning problems|
|Complications||Autism spectrum disorder, ADHD|
|Diagnostic method||Chromosomal analysis|
What type of mutation is Klinefelter syndrome?
Klinefelter syndrome can be caused by: One extra copy of the X chromosome in each cell (XXY), the most common cause. An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms. More than one extra copy of the X chromosome, which is rare and results in a severe form.
What is the name of trisomy 13?
Patau’s syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.
What is trisomy 14 called?
General Discussion. Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term “mosaic” indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair.
How many chromosomes do Down syndrome have?
Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.