TERM
sex chromosome disorders
compared to the autosomes, numerical abnormalities
more common and less lethal
TERM
trisomy 21
most common chromosome # abnormality
47xx+21, 47xy+21
nondisjunction during meiosis - ovum has an extra
chrom 21
1 in 800-1000 live births
mental ret., cong. heart dis.
more prone to leuk, alzheimers
genes on chrom. produce proteins. with extra chrom.
you are producing extra proteins which upsets
homeostasis, feedback mechanisms.
TERM
,Fat necrosis
breast, pancreas
looks like white chips of soap
triglycerides --> free fatty acids ---> soaps
TERM
X-linked recessive disorders
genes are not found on Y chrom.
females carrying gene are usually asymptomatic due to
normal homologous X chrom. Males carrying gene WILL
express disorder.
affected males do not pass gene to their sons, but will
pass to daughter
TERM
disorders of autosomes
chromosomal number
structural abnormalities
,TERM
Klinefelter syndrome
47 XXY, 48 XXXY (poly X syndrome)
1 in 500-1000 male births
due to nondisjunction of the X
very tall, long limbs, female fat distribution, some
degree of breast development
TERM
autosomes
homologous within the pair
TERM
replication
end of interphase
92 chromosomes, before splitting into 2 cells
, TERM
trisomy X
affects 1 in 1000 newborn females
mild mental retardation and sterility
due to nondisjunction
TERM
RNA - sugar, structure
ribo sugar, single stranded
TERM
lead
sex chromosome disorders
compared to the autosomes, numerical abnormalities
more common and less lethal
TERM
trisomy 21
most common chromosome # abnormality
47xx+21, 47xy+21
nondisjunction during meiosis - ovum has an extra
chrom 21
1 in 800-1000 live births
mental ret., cong. heart dis.
more prone to leuk, alzheimers
genes on chrom. produce proteins. with extra chrom.
you are producing extra proteins which upsets
homeostasis, feedback mechanisms.
TERM
,Fat necrosis
breast, pancreas
looks like white chips of soap
triglycerides --> free fatty acids ---> soaps
TERM
X-linked recessive disorders
genes are not found on Y chrom.
females carrying gene are usually asymptomatic due to
normal homologous X chrom. Males carrying gene WILL
express disorder.
affected males do not pass gene to their sons, but will
pass to daughter
TERM
disorders of autosomes
chromosomal number
structural abnormalities
,TERM
Klinefelter syndrome
47 XXY, 48 XXXY (poly X syndrome)
1 in 500-1000 male births
due to nondisjunction of the X
very tall, long limbs, female fat distribution, some
degree of breast development
TERM
autosomes
homologous within the pair
TERM
replication
end of interphase
92 chromosomes, before splitting into 2 cells
, TERM
trisomy X
affects 1 in 1000 newborn females
mild mental retardation and sterility
due to nondisjunction
TERM
RNA - sugar, structure
ribo sugar, single stranded
TERM
lead
