mosaicism

Information, Symptoms, Treatments and Resources

Blank

What is mosaicism?

Mosaicism refers to a condition where an individual has two or more cell populations that differ in genetic makeup. This situation can affect any type of cell, including blood cells, gametes (egg and sperm cells), and skin.

Mosaicism may be detected through chromosome evaluation. It is usually described as a percentage of the cells examined. The normal chromosome finding in males is 46 XY and normal in females is 46 XX.

Examples of chromosomal mosaicism include:

  • Turner Syndrome Mosaic - a female with a certain percentage of the normal cell line (46, XX), plus another percentage of an abnormal cell line associated with Turner Syndrome (45, X).
  • Klinefelter Syndrome Mosaic - a male with a percentage of the normal cell line (46, XY), plus another percentage of an abnormal cell line associated with Klineflter Syndrome (47, XXY).
  • Down Syndrome Mosaic - a male with the normal cell line (46, XY), plus an abnormal cell line (47, XY, +21) or a female with the normal cell line (46, XX), plus an abnormal cell line (47, XX, +21). That is, in Down syndrome, the individual has an extra chromosome no. 21.
Alternative Names:

Chromosomal mosaicism; Gonadal mosaicism

Posts on mosaicism (155)
Hello, My wife is 23 wks pregnant with a girl. A number of days ago we got the results of...
Hello, My wife is 23 wks pregnant with a girl. A number of days ago we got the results of ...
My 11 week old granddaughter was diagnosed with IP last week (through biopsy). She was bor...
I just gave birth to my baby boy! While still in the hospital the pediatrician begins quest...
Has anyone been diagnosed with mosaic Turner's Syndrome as an adult? I have only a mild fo...
Just wondering if you'd like to share your story. :o)
A CVS test has confirmed mosiac trisomy 18 present in my placenta. Numerous scans (16 week...
Hi everyone who reads this!! I live in Sweden with my family, has got a son of 4 year wh...
I have a 16 year old sister who had a a FISH karyotype test and it showed she had 46 XX but...
Has anyone else out there done a CVS? I'm just curious if anyone else got a confined placen...
MedHelp Health Answers
Submit