Yell Umahag MLS 2-C

ANEUPLOIDY
47, XXY (Klinefelter syndrome)
47, XXY (or XXY) is a genetic condition caused when someone has two X
chromosomes and one Y chromosome. Males normally have an X chromosome and
a Y chromosome (46, XY), and females normally have two X chromosomes (46, XX).
Because people with an XXY chromosome arrangement have a Y chromosome, they
are considered genetic males. Most XXY individuals develop as males, often not
knowing they have an extra chromosome. Some will develop the varied and often
subtle characteristics associated with Klinefelter syndrome. And a small proportion
will develop as intersex (between male and female) or female. Physical
characteristics may appear around the time of puberty, when gender identity and
sexual characteristics begin to take shape.
Similar conditions are caused by additional X chromosomes (48, XXXY; 49, XXXXY),
but they are much more rare. The more X chromosomes a person has, the stronger
the physical characteristics and health problems tend to be, including intellectual
disability.
Down Syndrome
Down syndrome is a developmental disorder caused by an extra copy of
chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an
extra copy of this chromosome means that individuals have three copies of each of
its genes instead of two, making it difficult for cells to properly control how much
protein is made. Producing too much or too little protein can have serious
consequences. Genes on chromosome 21 that specifically contribute to the various
symptoms of Down syndrome are now being identified.
Trisomy 18 (Edwards syndrome)
Trisomy 18 is caused by an extra chromosome 18. It is the second most common
trisomy after Trisomy 21, occurring approximately once in every 6,000 to 8,000
births. Over 95% of infants with Trisomy 18 syndrome will have a full trisomy while
the remainder will have a trisomy due to a
mosaicism from GHR.

translocation from GHR or

Infants born with Trisomy 18 are usually small at birth.

Trisomy 13 (Patau syndrome)
Trisomy 13 is cause by an extra chromosome 13. It is the third most common
trisomy (after Trisomy 21 and 18) occurring approximately once in every 10,000
births. Trisomy 13 is caused by non-disjunction (80%) and translocations (20%).

Infants born with Trisomy 13 have a recognizable pattern of malformations

Turner syndrome (45,X)

Turner syndrome (45,X) is caused by complete or partial absence of the second sex
chromosome. Approximately 50% have complete loss of the second sex
chromosome. The remaining 50% have variations including structural
rearrangements of one of the X chromosomes and/or mosaicism with one normal
cell line and one abnormal cell line. Turner syndrome occurs in approximately 1 in
every 2,000 live female births. However, it is estimated 99% of Turner syndrome
conceptuses are lost prenatally.
The cardinal features of females with Turner syndrome are short
stature and gonadal dysgenesis. The majority of affected individuals are identified
at birth or before puberty due to the distinctive clinical features.