Jaime R.

Soriano |
SHS Faculty
 Sex Chromosomes
Let’s Review

In Humans the “Sex

Chromosomes” are
the 23rd set

XX chromosome XY chromosome
Content
Autosomal Abnormalities/Anomalies
▪ Numeric Chromosomal Abnormalities/Anomalies
▪ Structural Chromosomal Abnormalities/Anomalies

Sex Chromosomes Abnormalities/Anomalies

▪ Numeric Chromosomal Abnormalities/Anomalies
▪ Structural Chromosomal Abnormalities/Anomalies
AUTOSOMAL
ABNORMALITIES/ANOMALIES
A.Down Syndrome (Trisomy 21)
B.Edward Syndrome (Trisomy 18)
C.Patau Syndrome (Trisomy 13)
DOWN
SYDROME
EDWARDS
SYNDROME
(TRISOMY 18)
Identified by Dr. John Hilton
Edwards (British geneticist)
PATAU SYNDROME
(TRISOMY 13)
Identified by Dr. Klaus Patau
(German geneticist)
SEX CHROMOSOME
ABNORMALITIES/ANOMALIES
A.Triple X Syndrome
B.Fragile X Syndrome
C.Klinefelter Syndrome
D.Turner Syndrome
TRIPLE X
SYNDROME
Identified by Dr. Patricia Jacobs
(Scottish geneticist)
FRAGILE X
SYNDROME
Identified by Dr. James Purdon Martin
(British neurologist) and Dr. Julia Bell
(English geneticist)
Fragile X
Syndrome
Karyotype
Fragile X Syndrome
• FXS also known as Martin-Bell syndrome, is an inherited
condition that causes developmental delays, intellectual
disabilities, learning and behavioral issues, physical abnormalities,
anxiety, attention-deficit/hyperactivity disorder and/or autism
spectrum disorder, among other problems.
• FXS is named fragile X syndrome because, when looked at
through a microscope, part of the X chromosome looks “broken”
or “fragile.”
Physical Symptoms of Fragile X
Syndrome
•A long, narrow face. • Very flexible or double-
jointed fingers.
•A large forehead. • Flat feet.
•A large jaw. • Enlarged testicles (in males,
•Soft skin. after puberty).
•Large ears and • A high-arched palate (the
roof of the mouth).
crossed/lazy eyes. • Low muscle tone.
KLINEFELTER
SYNDROME
Identified by Dr. Harry Klinefelter
(American physician)
TURNER
SYNDROME
Identified by Dr. Henry Turner
(American endocrinologist)
Jaime R. Soriano |
SHS Faculty