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    Chromosomal Anomalies

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    Chromosomal-anomalies

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    Chromosomal Anomalies

    Uploaded by

    John Mccartney
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    © All Rights Reserved
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    Download as pdf or txt
    of 30

    28.10.

    2014

    Chromosomal Anomalies

    Dr. Archana Rani


    Associate Professor
    Department of Anatomy
    KGMU UP, Lucknow
    Introduction
    • Teratology

    • Causes of congenital malformations:


    (a) Genetic factors: chromosomal abnormalities
    (b) Environmental factors: drugs, viruses

    • Types of chromosomal abnormalities:


    (a) Numerical
    (b) Structural
    Causes of congenital
    malformations
    Numerical Chromosomal Abnormalities

    • Changes in the number of chromosomes:


    • Polyploidy
    • Somatic cells contain multiples of
    haploid number of chromosomes
    • 3n, 4n, 5n etc.
    • Aneuploidy (Heteroploidy)
    • Deviation from the diploid number of
    chromosomes
    • 2n + 1, 2n -1 etc.
    Mechanism of Polyploidy

    (a) Failure of pulling apart of 2 chromatids to


    opposite ends after metaphase stage of
    mitosis.
    (b) Reduplication of chromosomes without
    dissolving of nuclear membrane.
    (c) Failure of cytoplasmic division.
    Types of Polyploidy

    1. Autopolyploidy: even-numbered multiples of


    haploid number of chromosomes. e.g.-

    (a) Tetraploidy (23x4 or 92 chromosomes)

    (b) Hexaploidy (23x6 or 138 chromosomes)

    (c) Octaploidy (23x8 or 184 chromosomes)

    etc.
    Types of Polyploidy

    2. Allopolyploidy: odd-numbered multiples of haploid


    number of chromosomes. e.g.-

    (a) Triploidy (23x3 or 69 chromosomes)-


    commonest

    (b) Pentaploidy (23x5 or 115 chromosomes)

    (c) Heptaploidy (23x7 or 161 chromosomes)

    etc.
    Mechanism of Aneuploidy

    Non-dysjunction: failure of separation of


    chromosomes during cell division.
    • Formation of 2 types of gametes (both abnormal)
    • Fusion of either of these abnormal gametes with a
    normal gamete can result in trisomy or
    monosomy
    • May involve autosomes or sex chromosomes
    Normal 1st & 2nd meiotic division Two types of non-disjunction
    Trisomies of Chromosomes

    • Presence of 3 copies of a chromosome

    • Trisomy of Autosomes (13,18,21)

    • Trisomy of Sex Chromosomes (XXX, XXY)


    Trisomy of Autosomes

    • Trisomy 13 or D-trisomy (Patau syndrome)

    • Trisomy 18 or E-trisomy (Edward syndrome)

    • Trisomy 21 or G-trisomy (Down syndrome)


    Trisomy 13 (Patau Syndrome)

    • 1st described by Bartholin (1657) & redefined by


    Patau (1960).

    • Chromosomal complement: 47,XX,+13 (female) or


    47,XY,+13 (male)

    • Phenotype: Male or female

    • Incidence: 1:12,000 (increases with the age of


    mother)
    Features of Patau Syndrome

    • Mental deficiency • Malformed ears


    • Low birth weight • Congenital heart
    • Abnormal development defects
    of frontal lobe • Renal tract anomalies
    • Absence of corpus • Microphthalmia
    callosum
    • Bilateral cleft lip/palate
    • Hypoplasia of
    cerebellum • Polydactyly with
    • Sloping forehead rudimentary digits
    • Scalp defects • Rocker-bottom heel
    Patau syndrome
    Patau syndrome
    Trisomy 18 (Edward Syndrome)

    • Chromosomal complement: 47,XX,+18 (female) or


    47,XY,+18 (male)

    • Phenotype: Male or female

    • Incidence: 1:8000
    Features of Edward Syndrome

    • Mental deficiency • Low-set malformed ears


    • Growth retardation • Ventricular septal
    • Prominent occiput with defects
    elongated head • Renal anomalies
    • Webbing of the neck • Clenched fists with
    • Short sternum overlapping of fingers
    • Micrognathia • Hypoplastic nails
    Edward syndrome
    Trisomy 21 (Down Syndrome)

    • Chromosomal complement: 47,XX,+21 (female) or


    47,XY,+21 (male)

    • Phenotype: Male or female

    • Incidence: 1:800 (increases with the age of


    mother)
    Features of Down Syndrome

    • Short height • Malformed large ears


    • Severe mental • Epicanthal folds of the
    deficiency with decline eyes
    in the IQ with age • Brushfield spots in iris
    • Brachycephaly with flat • Renal anomalies
    face and occiput • Prominent and
    • Flat and low nasal protruding tongue
    bridge (scrotal tongue)
    • Upward slant to • Simian crease
    palpebral fissures
    • Clinodactyly of 5th digit
    Down Syndrome
    Down syndrome
    Down syndrome
    Down syndrome
    REFERENCES

    1. Essentials of Anatomy for Dentistry Students,1st


    Edition.

    2. Langman’s Medical Embryology,11th Edition.

    3. Human Embryology, 5th Edition.


    MCQs

    1. Patau syndrome is associated with trisomy


    of chromosome:

    a) 13
    b) 15
    c) 18
    d) 21
    MCQs

    2. Rocker-bottom heel is associated with:

    a) Patau syndrome
    b) Edward syndrome
    c) Down syndrome
    d) None of the above
    MCQs

    3. Brushfield spots is a characteristic feature of:

    a) Patau syndrome
    b) Edward syndrome
    c) Down syndrome
    d) None of the above
    MCQs

    4. All of the following are trisomy of autosomes


    except:

    a) Edward syndrome
    b) Klinefelter syndrome
    c) Down syndrome
    d) Patau syndrome
    MCQs

    5. All of the following are examples of autopolyploidy


    except:

    a) Triploidy
    b) Tetraploidy
    c) Hexaploidy
    d) Octaploidy

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