Chromosomal Abnormalities

(Number and Structure)

ADAM RAY H. MANLUNAS

MS Science Education (Chemistry)
Mindanao University of Science & Technology
Introduction
 Normal human cells contain 23 pairs of
chromosomes
 This includes one pair of sex chromosome
XX or XY
 We can identify chromosomes during Cell
division
 Haploid: set of 23 chromosomes
 Diploid: normal number of 46 chromosomes
 Abnormalities in Chromosome Number

Aneuploidy: having a single extra chromosome

(47), or a missing chromosome (45).
 Triploidy: having 69 chromosomes
 Mosaicism: two or more populations
of cells with different genotypes in one
individual who has developed from a
single fertilized egg.
Incidence
 50% of conceptions end in spontaneous
abortions
 Approx. 25% of conception have major
chromosomal defects
 Chromosomal abnormalities account for
7% of major birth defects; the most
common is Turner’s syndrome
 Generally
6/1000 incidence of
chromosomal abnormalities
When to suspect it
 Unexplained infertility
 Multiple abortion >2
 Prior case of defective baby
 Presence of congenital anomalies
 45% have minor single anomalies
 1.5% HAVE major anomaly

2 or more major anomalies may

represent genetic syndrome or
chromosomal abnormalities(10%).
 Abnormalities in
Chromosome Number
Down Syndrome (Trisomy 21)
 Incidence 1/700
 2/3 of down fetus spontaneously aborted
 Clinical diagnosis depend on gestalt screening
 Trisomy 21 in 94% of cases with extra
chromosome come mostly from mother (95%)
 Risk correlate with maternal age
 <25 y/o 1/1600
 >40 y/0 1/80
 2% are mosaic
Other Clinical features
 Hypotonia(reduced muscle strength)
without weakness
 Clinodactyly (abn. bending of fingers or toes)
 protruded tongue, small ears,
brachycephaly, small up turned nose,
depressed nasal bridge.
 Mental retardation, socially do better with
good environment (Happy children)
Trisomy 18
 Incidence 1/8000
 Sever Mental retardation
 >90% dead in 1st year
Manifestations:
 Small face with prominent occiput
 Small sternum and pelvis
 Flexion deformity of the finger
 Heart defect and horseshoe kidney
Trisomy 13
 Sever developmental retardation
 Incidence 1/20000
 90% dead in the 1st year

Manifestations:
 Midline brain defect
 Malformed ear
 Microphthalmia and coloboma
 Scalp defect
Microphthalmia

Coloboma
Trisomy 13
TURNER SYNDROME
45th X karyotype
Only monosomy
compatible with life
Cause
Nondisjunction in male
gamete
Structural abnormalities of
X chromosome
One X chromosome is
missing
Mitotic nondisjunction
Klinefelter syndrome
 87% have 47th XXY and 20% mosaic
 IQ is 98 (normal) with mild decrease in verbal
IQ
 Scoliosis, decrease libido, gynecomastia
 Less production of testosterone
 Infertility
 undescended testes (cryptorchidism),
(micropenis).
Klinefelter vs Turner Syndrome
 Abnormalities in
Chromosome Structure
Fragile X Syndrome
 Moderate to severe 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
ANGELMAN’S SYNDROME
Microdeletion (span few
contiguous genes) on
long arm of chromosome
15.
Inherited on maternal
chromosome
Manifestations:
Mentally retarded,
Cannot speak
Prolonged periods of
laughter
A segment of the maternal chromosome 15 containing this gene is
deleted. Angelman syndrome is caused by a mutation in the
maternal copy of the UBE3A gene.
PRADER-WILLI SYNDROME
Microdeletion occurs
on long arm of
chromosome 15
Inherited on paternal
chromosome
S/S
Obesity
Mental retardation
Hypogonadism
Cryptorchidism
 A segment of the paternal chromosome 15 is
deleted in each cell. the genes on the maternal
copy are turned off (inactive)creating defects. 
 Genetic Imprinting

These syndromes depend on whether the

affected genetic material is inherited from
the mother or father. Thus, creating an
example of imprinting.