Sex

Chromosomes
Abnormality

Rustie O. Manzano
introduction
Normal human cells contain 23 pairs of chromosomes
This includes one pair of sex chromosome XX or XY
During cell division we can identify chromosomes
Lymphocytes incubated for 2-3 days or uncultured bone
marrow in 4-24 hours
continue
Haploid: set of 23 chromosomes
Diploid: normal number of 46 chromosomes
Aneuploidy: less than an even multiple of 23 usually is 45 or
47 and rarely 48,49
Triploidy: 69 chromosomes
Mosaicism
Abnormal in deletion and translocation(balanced and
unbalanced)Balanced
anomalies Sex Chromosome Abnormalities

Pattern / Name Characteristics Incidence Treatment

XYY Male; tall stature; tendency to low IQ, 1 in 1,000 male births No special treatment
especially verbal
XXX Female; normal appearance, menstrual 1 in 1,000 female births Special education
(triple X) irregularities, learning disorders,
mental retardation
XXY Male, sterility, underdeveloped secondary 1 in 1,000 male births Hormone therapy, special education
(Kleinfelter) sex characteristics, small testes,
learning disorders
XO Female, short stature, webbed neck, 1 in 3,500 female births Hormone therapy, special education
(Turner) impaired spatial abilities, no
menstruation, sterility, underdeveloped
sex organs, incomplete development
of secondary sex characteristics

Fragile X Minor-to-severe mental retardation; 1 in 1,200 male births; Educational and behavioral therapies when
symptoms, which are more severe in 1 in 2,000 female births needed
males, include delayed speech and
motor development, speech
impairments, and hyperactivity; the
most common inherited form of
mental retardation
Sex Chromosome Abnormalities
Occur during non-disjunction of X or Y
chromosomes at meiosis I or meiosis II
Normally in meiosis to produce eggs,
the two Xs pair at meiosis I
Egg X
X 1st polar body X
X
2nd polar body X
2nd polar body X
1st division 2nd division
Sex Chromosome Abnormalities
non-disjunction of X chromosomes at
meiosis I in female

Egg XX
X
polar body XX
X
1st division 2nd division

XX eggs fertilized by X sperm give Triple X female;

XX eggs fertilized by Y sperm give XXY male
Sex Chromosome Abnormalities
Occur during non-disjunction of X or Y
chromosomes at meiosis I or meiosis II
Normally in meiosis to produce sperm,
a small part of the X and Y pair
X
X X
Y
Y
Y
1st division 2nd division
Sex Chromosome Abnormalities
Occur during non-disjunction of X or Y
chromosomes at meiosis I or meiosis II
Non disjunction in meiosis to produce sperm,
can cause: XX, XY, YY or O sperm

X
Y
XY
XY
XY sperm meets X egg to produce XXY male
Triple X females- (47 XXX)
Fertile; tend to have XX or XY offspring
Normal IQ range
75% slow in learning reading, math
tendency for anxiety

frequency in population is about 1/

4,000 live births
also called triplo X
Turners syndrome females (45 XO)

sterile
Turners syndrome females are under 5
and usually normal IQ
difficulty in 3D rotation tests
heart and kidney problems; frequency
1/2,000 live births
Estrogen helps for secondary sex
character development
HGH allows increase in stature
about 1 in 2,500 female births
Turner syndrome
Most common abnormality in early abortion
Female, short stature, primary amenorrhea, sterility,
spares hair and underdeveloped breast
Neonatal: wide spaced nipple, lymphedema , shield
chest,
Coarctation of the aorta
Continue turner syndrome
Normal IQ scale with difficulty in spatial orientation
such as map
Present with short stature or delay sex maturation
Hormonal therapy
Klinefelter Males (47 XXY)
Taller than average; infertile; small testes
At puberty some breast development is easily treated
with testosterone but does not restore fertility
Occurs 1 in 500 to 1000 male births
XYY males
Taller than average; acne worse than average; normal
IQ
XYY males are fertile; have XX or XY children
Frequency 1 in 300 to 1 in 1000 births
Slight increase of XYY individuals in prison population
per capita
Sex chromosomes abnormalities

KLINEFLETER
SYNDROME
A male with XXY
chromosomes
Exhibits some female
characteristics
Such as enlarged
breasts and
high pitched voice
Klinefelter syndrome
20% of aspermic adult male (blocked
spermatogenesis
47 XXY in 80% and mosaic in 20%
IQ is 98 (normal) with mild decrease in verbal IQ
Scoliosis, decrease libido may improve with
testesterone, gynecomastia
How does it happen?
Non-disjunction can result in
abnormalities in the number of
sex chromosome. Both Klinefelter
and Turners result from
nondisjunction
of either the male or female
gamete.
The disjunction of the female
gametes
can result in a Triple X female
XYY
If in meiosis II the Y chromosome does not
separate and is passed on to a boy the sex
chromosomes will be XYY. Boys with this are
unusually tall but have normal fertility. Studies
have also shown that these men tend to be
more violent than a XY male.
Down Syndrome
Incidence 1/700
2/3 of down fetus spontaneously abort
Clinical diagnosis depend on gestalt
Trisomy 21 in 94% of cases with extra chromosome
from mother mostly(95%)
Risk correlate with maternal age
<25 y/o 1/1600
>40 y/0 1/80
2% are mosaic
Other Clinical features
Hypotonia without weakness
Clinodactaly protruded tongue,small
ears,brachycephaly,small up turned nose,
depressed nasal bridge.
Mental retardation, socially do better with good
environment (Happy children)
Clinical issues

Cardiac and GI
Hypothyriodism
Transient leukemoid reaction
Alzheimers disease up to 25%
over 40 y/o
Early death relate to cardiac
dysfunction
Trisomy 18

Incidence 1/8000
Overlaps with trisomy 13
Sever Mental retardation
>90% dead in 1st year
Trisomy 18

Small face with prominant occiput

Small sternum and pelvis
Flexion deformity of the finger
VSD and horseshoe kidney
triploidy
Complete extra set of chromosomes
Mostly miscarriages
Fetal wastage skeleton more than cephalic, 2%
survive to be recognized
Large hydatidiform placenta
VSD, ASD, Syndactaly
Genital and CNS abnormalities
Trisomy 13

Sever developmetal retardation

Incidence 1/20000
90% dead in the 1st year
Trisomy 13

Midline brain defect

Malformed ear
Microophalmos and coloboma
Scalp defect
Fragile X Syndrome
Moderate to sever mental retardation
Speech delay, short attention, hyperactivity
Poor motor coordination and mouthing objects
Poor socialization, temper tantrum
Mood disorder (bipolar), schizophrenia
Fragile X syndrome
Long protruding ears
Long face and prominent jaw
Flattened nasal bridge
High arch palate
Macroorchidism
Genetic is complex, 80% penetration in male
and 30% penetration in female
Genetic imprinting
Means: as genomes pass through miosis it is
normal for part of it to change.
During miosis inactive X chromosome become
active and changes on fragiloe X gene
(imprinting) make it malignant
Angelman syndrome
Sever mental retardation
Inappropriate laughter
Decrease pigmentation of choroid or iris (pale blue
eyes)
Ataxia and jerky eye movement
Sever speech proplem
Deletion of b15q11q13, maternal in origin
Paternal uniparental disomy
Prader-willi syndrome
(A fat red faced boy in state of somnolency) Charles
Diickens
Early hypotonia
Obesity
Short stature as adult
Almond shaped blue eyes
Mental retardation (mild to moderate)
Narrow hands
Chromosomal linked disorder
Smith Lemli opitz syndrome
Low cholesterol
High 7 dehydrocholesterol
Like trsomy 18
CHARGE
Coloboma
Heart
Atresia of choanae
Retarded
Genitalia hypoplasia
Ear anomalies
VATER
 The End thank
you!