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 X’s pair at meiosis I Egg X X 1st polar body X X 2nd polar body X 2nd polar body X 1st division 2nd division .

XX eggs fertilized by Y sperm give XXY male .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.

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 .

XY. YY or O sperm X Y XY XY XY sperm meets X egg to produce XXY male .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.

000 live births • also called triplo X .(47 XXX) • Fertile.Triple X females. 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.

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.000 live births – Estrogen helps for secondary sex character development – HGH allows increase in stature – about 1 in 2. frequency 1/2.500 female births .

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primary amenorrhea. shield chest. spares hair and underdeveloped breast  Neonatal: wide spaced nipple. short stature.Turner syndrome  Most common abnormality in early abortion  Female. sterility. lymphedema .  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 .

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 .Klinefelter Males (47 XXY) • Taller than average. infertile.

normal IQ • XYY males are fertile.XYY males • Taller than average. acne worse than average. 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 .

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decrease libido may improve with testesterone.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. gynecomastia .

The disjunction of the female gametes can result in a Triple X female .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.

Boys with this are unusually tall but have normal fertility.XYY  If in meiosis II the Y chromosome does not separate and is passed on to a boy the sex chromosomes will be XYY. 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 .

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depressed nasal bridge.brachycephaly.small up turned nose.  Mental retardation.small ears. socially do better with good environment (Happy children) .Other Clinical features  Hypotonia without weakness  Clinodactaly protruded tongue.

Clinical issues  Cardiac and GI  Hypothyriodism  Transient leukemoid reaction  Alzheimer’s 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 .

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ASD.triploidy  Complete extra set of chromosomes  Mostly miscarriages  Fetal wastage skeleton more than cephalic. 2% survive to be recognized  Large hydatidiform placenta  VSD. Syndactaly  Genital and CNS abnormalities .

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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 .

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Fragile X Syndrome  Moderate to sever mental retardation  Speech delay. temper tantrum  Mood disorder (bipolar). schizophrenia . hyperactivity  Poor motor coordination and mouthing objects  Poor socialization. short attention.

80% penetration in male and 30% penetration in female .Fragile X syndrome  Long protruding ears  Long face and prominent jaw  Flattened nasal bridge  High arch palate  Macroorchidism  Genetic is complex.

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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 .

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maternal in origin  Paternal uniparental disomy .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.

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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! .