Mosaic Down syndrome accounts for about 2 to 4% of all cases of Down syndrome.

To truly
understand what mosaicism means, it is important to take a step back and understand the concept
of cells.

Mosaic Down Syndrome and Cells

Our entire bodies are made up of cells. There are kidney cells, skin cells, muscle cells and more.
While every body contains a multitude of different cell types, all of these cells originated from
the same single fertilized egg (zygote).

The zygote starts as one cell, duplicates itself and then divides into two cells. Those two cells
each duplicate themselves, divide and create four cells. Those four cells duplicate and divide to
create eight cells, and so on. This process of cell duplication and division occurs throughout the
life of an individual.

With full trisomy 21, the presence of an extra number 21 chromosome, the error or misdivision
of chromosomes occurs in the egg or sperm cell that becomes the zygote. Because this error was
at the very beginning of development, every cell that comes from this zygote will have an extra
number 21 chromosome.

With mosaic trisomy 21, the error or misdivision occurs after fertilization at some point during
early cell division. Because of this, people with mosaic Down syndrome have two cell lines --
one with the normal number of chromosomes, and one with an extra number 21.

How Is Mosaic Down Syndrome Diagnosed?

Mosaic Down syndrome is usually detected by a blood test at birth or during an amniocentesis or
CVS during pregnancy. A karyotype analysis is done, and typically the chromosomes in 20
different cells are counted. If two or more of the 20 are normal (have 46 chromosomes) and the
others have an extra number 21 chromosome (for a total of 47 chromosomes), the baby is said to
have mosaic Down syndrome.

If mosaicism is suspected, the cytogeneticist (chromosome specialist) will usually count extra
cells to confirm the diagnosis. Mosaicism is usually described as a percentage. For example, if
the cytogeneticist counts 50 cells, and 10 have a normal cell line and 40 have an extra number 21
chromosome, then the level of mosaicism is said to be 80%.

Percentage Mosaicism

While the percentage of mosaicism is usually determined from blood cells, the percentage may
actually be different in other tissues or parts of the body. For example, a person could have 80%
mosaicism in their blood cells, but have full trisomy in their skin or brain cells. While it is known
that the percentage of mosaicism can be different in different tissues, biopsies are not usually
done because they are invasive and usually dont give any information about how a person with
mosaic Down syndrome will ultimately function.
Level of Mosaicism and Features of Down Syndrome

Individuals with mosaic Down syndrome may or may not have milder disabilities and less
obvious features of Down syndrome. Because levels of mosaicism vary between individuals and
within the cells of the individuals themselves, the effect of mosaicism is wide and variable.

Individuals with mosaic Down syndrome can have all of the problems associated with the full
trisomy 21, none of the problems, or somewhere in between.

Should I Treat My Baby with Mosaic Down Syndrome Different Than a Child
with Trisomy 21?

No, every baby with mosaic or full trisomy 21 should be treated the same. Because it is
impossible to predict function or features from the level of mosaicism, it is important that a child
with mosaic Down syndrome receive the same medical care and therapies as a child with full
trisomy 21. Only time will tell if the disabilities of a child with mosaic Down syndrome are
milder than a child with trisomy 21.

In the meantime, it is important to make sure your child receives all the support she needs to live
a full life and achieve her goals.

SOURCES:

Cassidy, Suzanne B. , Allanson, Judith E., (2001) Management of Genetic Syndromes. 1st ed.
New York, NY; 2001.

Fishler K, and Koch R. Mental Development in Down syndrome mosaicism. American Journal
of Mental Retardation 1991; 96 (3): 345-351.f
Physical Characteristics

Because a person with mosaic Down syndrome has a percentage of cells with the extra 21 st
chromosome associated with Down syndrome, individuals can exhibit some or all of the physical
characteristics associated with Down syndrome. In most cases, these individuals have fewer of
these features or they are less prominently visible.

It is important to remember that the general population can exhibit these types of characteristics.
It is when more than one of these characteristics is found in a person that more investigation is
needed to determine if the individual has extra chromosomes.

Head and Face:

Back of head flat in line with neck

Excess skin or webbing around neck

Small low-set ears

Straight, fine hair

Flat nasal bridge

Epicanthal folds (a fold of skin in the inside corner of the eye)

Almond shaped eyes (often related to those of Asian descent)

Brushfield spots (white flecks on the colored part of the eye)

Late eruption of baby teeth and adult teeth

Protruding tongue

Hands and Feet:

Single crease across one or both palms

Short fingers

Single flexion furrow on fifth finger (one knuckle instead of two)

Short toes

Large space between first and second toe

Additional Features:

Short in stature

Unusually dry skin

Low muscle tone at birth

Loose or 'double' joints