Human Genetics Flashcards
Types of Autosomes
Down Syndrome
E Trisomy Syndrome
D Trisomy Syndrome
Cri-du-Cat syndrome
Philadelphia syndrome
Trisomic duplicate chromosomes of 21 or 22 Group D and E
Has an IQ of 25-74
Down Syndrome
Mentally retarded chromosome 16,17,18
E trisomy Syndrome
Chromosomes 13,14,15
Mentally retarded
Anomalies in the eyes,brain,heart
D trisomy Syndrome
Short arm chromosome 5
Cat like cries in infants
Cri-du-Cat syndrome
Chromosome 21 is deleted
And cause granulocytes leukemia
Philadelphia Syndrome
Types of abnormalities in sex chromosomes
Kinefelters Syndrome
Turner’s syndrome
Tripo-X syndrome
Double Y syndrome
Hermaphroditism
Muscular dystrophy
XXY chromosomes
Breast enlarge
Mentally retarded
Submissive
Klinefelter’s Syndrome
One chromosome X
Female
Sterile
Turner’s syndrome
Menstrual irregularities
Premature menopause
Subnormal
Tripo-X Syndrome
Have both genitals
Have abnormal Y chromosome
Hermaphroditism
Chromosome X is deleted
Enzyme called Dystrophin
Muscular Dystrophy
Types of Inborn Error of Metabolism
Galactosemia
Phenylketonuria
Primaquine
Abnormal hemoglobins
Predisposition to allergy
Cataract
Types of abnormal hemoglobins
Sickle cell anemia
Thalassemia (heterozygote)
Enzyme Gal-1-puridyl transferase
Lactose tolerant
Galactosemia