Autosomal Disorders

• Cytogenetics- study of chromosomes and their

AUTOSOMAL & SEX CHROMOSOMAL abnormalities
• Abnormalities of autosomes:
DISORDERS
– Alteration in number (Aneuploidy)
– Alteration in structure
• Deletion
• Translocation
• Formation of ring chromosome
• Shift
• Inversion

ALTERATION IN NUMBER ALTERATION IN NUMBER

ALTERATIONIN STRUCTURE ALTERATIONIN STRUCTURE

Ring Insertion Translocation

Repetitions
 Autosomal Disorders Down’s syndrome (Trisomy 21)
• A. Alteration in number (Aneuploidy) • Mental retardation
• Abnormal fascies (epicanthal
– 1. Down’s syndrome Trisomy 21 1.5/1000 folds, broad tongue, widely
spaced eyes, upturned snub
– 2. Pataus syndrome Trisomy 13 .1/1000 nose)
– 3. Edwards syndrome Trisomy 18 .2/1000 • Increased frequency of
congenital heart disease
• B. Alteration in structure (ASD/VSD and PDA)
• Simian crease; change in dermal
– 1. Cri-du-chat syndrome Deletion of chr.5 ridge patterns of hands and feet
• Associated with late maternal
– 2. Wolf’s syndrome Deletion of chr.4 age

Edwards syndrome (Trisomy 18) Pataus syndrome Trisomy 13

• Extra chromosome 18
• Extra chromosome 13
• Poorly developed lower
jaw, abnormal ears (fawn- • Holoprosencephaly-
like), triangular face, grossly abnormal face and
• Rocker botton feet & a poorly developed brain
hammertoe (hallux short & • Severely mentally retarded
dorsiflex)
• Flexion deformities of
• Early mortality
wrists and crossed over • “Rocker bottonfeet”
fingers (convex soles & protruding
• Severe congenital heart heels)
disease
 Autosomal Disorders Cri-du-chat Autosomal Disorders-Deletion of chr.4
syndrome (Wolf’s Syndrome)
• Deletion of short arm (p)
of chromosome 5 • Deletion of short arm
• Peculiar cry (meowing of a of chr.4
cat) due to softening of • Facial asymmetry,
larynx
• Hypertonicity and peculiar micrognathia
fascies • Mental retardation
• Mental retardation
• Hypotonicity
• rounded facies (moonlike
) due to microcephaly • Hypospadias
• Can reach adulthood
• Seizures

Non-disjunction of Sex
Sex Chromosome Disorders Chromosomes
• Turner’s Syndrome XO .4/1000 females
• Failure of sex
• Klinefelter’s Syndrome XXY 1.2/1000 chromosomes to
females separate during cell
• Triple X female XXX .8/1000 females division
• Double Y Male XYY 1/1000 females

Turner’s Syndrome Turner’s Syndrome

• MonosomyX
• Short stature
• Webbingof neck
• Shield chest
• Bilateral
lymphedema of feet
• Chromatinnegative
• Absent Barr body
Turner’s Syndrome ( Monosomy X
) Klinefelter’s Syndrome
• Testicular feminization syndrome
• Androgen insensitivity syndrome
• Gynecomastia
• Hyalinization of seminiferous tubules
• Infertility

Klinefelter’s syndrome Klinefelter’s Syndrome ( 47XXY )

Triple X syndrome Trisomy X

• Maybe associated with subnormal intelligence

• Suboptimal fertility
• Delayed menarche or premature ovarian
failure
 XYY syndrome XYY syndrome

• Increased tendency to psychiatric problems

• Antisocial behavior
46 XYY