Download Chapter 15 Genetic Disorder Chart

Genetic Disorders
Chapter 15
Disease
Type of
Inheritance
Duchenne
Muscular
Dystrophy
Sex-linked
Hemophilia
Sex-linked
Down Syndrome
Aneuploid
condition
Trisomy-21
Klinefelter
Syndrome
Aneuploid
condition
XXY
Turner
Syndrome
Aneuploid
condition
Cri du chat
XO
Deletion
Prader-Willi
Syndrome
Imprinting
Angelman
Syndrome
Imprinting
Fragile X
Syndrome
Imprinting
Symptoms/ Facts
 1 in 3,500 males in US
 Rarely live past early 20’s
 Disorder due to absence of X-linked gene for a key muscle protein
called dystrophin
 Disease is characterized by progressive weakening of muscles and
loss of coordination
 Absence of one or more clotting factors
 Blood clots form slowly and therefore lead to prolonged bleeding
 Bleeding in muscles and joints can be very painful and can lead to
serious damage
 1 in 700 children in US
 Frequency correlates with age of mother
 Characteristic facial features, short stature, heart defects,
susceptibility to respiratory infection, mental retardation
 Most are sexually underdeveloped or sterile
 Due to nondisjunction during gamete production
 Extra X chromosome in a male; Trisomy 23
 Have male sex organs (testes are small), but are sterile
 May have feminine characteristics
 Intelligence is normal
 One X chromosome; Monosomy X (Monosomy 23)
 1 in every 5,000 births
 Phenotypically female; sex organs do not mature; sterile
 Most have normal intelligence
 Deletion in a part of chromosome 5
 Mentally retarded, small head with unusual facial features
 Baby’s cry sounds like a distressed cat
 Death in infancy or early childhood
 Develops if receive allele from father (deletion in chromosome
15)
 Mental retardation, obesity, short stature, unusually small hands
and feet
 Develops if receive allele from mother (deletion in chromosome
15)
 Spontaneous laughter, jerky movements, and other motor and
mental symptoms
 Abnormal X chromosome in which the tip hangs on by a thin
thread of DNA
 Affects 1 in 1,500 males and 1 in 2,500 females
 More common when inherited from mother
 Mental retardation