Chromosomal Alterations in Human Genetics: A Comprehensive Guide to Autosomal and Sex Chromosome Disorders, Their Causes, and Clinical Manifestations.pptx

This document provides an in-depth exploration of chromosomal alterations, focusing on both autosomal and sex chromosome disorders. It serves as an educational resource for understanding various genetic conditions and their underlying chromosomal abnormalities.
This document is a valuable resource for students, educators, and healthcare professionals interested in human genetics and genetic disorders. It provides clear explanations of complex genetic concepts, detailed descriptions of various chromosomal abnormalities, and their associated symptoms. The inclusion of specific examples and a comparative table enhances the educational value of this material.
The content is presented in a structured manner, progressing from basic concepts to more specific disorders, making it accessible for readers with varying levels of prior knowledge in genetics.

3. Chromosomal abnormalities

Numerical

y

y

Sex chromosomes

Somatic chromosomes

y

v

y

Trisomy

Monosomy

Triploidy

y

Structural

Deletions

Duplications

Translocations

Inversions

Isochromosome

LELIET TL

Dicentric chromosomes

Ring chromosomes

4. Chromosome Abnormalities NHGRI FACT SHEETS

genome.gov

Deletion Duplication Inversion Substitution Translocation

> > > j i
2 > : 20 > À \
4 4 A Ja
5 4
4 4 4 4 4 4

IM ==-

5. (yy Normal

Klinefelter Ke}

X del(Xp) X i(Xq) X mar

( Y chromosome
syndrome syndrome rearrangements
o 7) 7
my + g
F i \
i $ oy @
FA ied 311 r
X Y XX Y X del(Yq)
Normal Turner Trisomy X
female syndrome syndrome
p 7 "
\ ig N H % #
LA . e
or pago } y pl
EN :
XX x x

6. BACKGROUND COMMON DISORDERS

+ CHANGES in CHROMOSOME STRUCTURE cr NUMBER * TRISOMY 21 E)
Us DOWN SYNDROME \
* NUMERICAL (ANEUPLOIDIES) Lp al
LL CHANGE te NUMBER of CHROMOSOMES + TRISOMY 18
Là EDWARDS SYNDROME Se Im
a STRUCTURAL ne rm
E ale
CHANGE Le SPECIFIC PART of CHROMOSOME core is
+ KLINEFEUTER SYNDROME
DELETION Lo GENOTYPE XXY
4 PORTION of CHROMOSOME DELETED.
2] ~ CRI-DU-CHAT SYNDROME + TURNER SYNDROME.
Le GENOTYPE X
INVERSION
"ORTE ORECTION REDUCE RISK
= DO NOT OFTEN RESULT in DISEASE + EATING HEALTHY
+ ABSTRINING from SMOKING & ALCOHOL
DUPLICATION + TAKING PRENATAL VITAMINS
MRC pcia + GENETIC COUNSELING

= CHARCOT-MARIE-TOOTH DISEASE TYPE 1

TRANSLOCATI y

4 PIECE ef ONE CHROMOSOM
SEM Or E ATTEND
to ANOTHER CHROMOSOME
POTENTIAL CAUSE OF TRISOMIES fa)

9. HR

Nucleosome

a ae oe

Centromere

22 Xx v MIA

Chromosome

10. Minh
x DAchm
= A | nomad.

h ams lo oh
ITnversim —
Panne

Lem rar
t_ AT

an

In. n,n Sa

11. Types of Chromosome Mutations

12. Chromosome duplication

Paracentric inversion
Pericentric inversion

‘Change in chromosome structure
Duplication of a chromosome segment

Movement of a emcee at to {nonhomologous chromosomejor to another
region of the same chromosome

Movement of a chromosome ad toa ogous com geo orto an
region of the same chi

Exchange between of logous or bi of the
Jde romo (ll a

‘Change in number of individual chromosomes

Loss of both members of a homologous pair

Loss of one member of a homologous pair

Gain of one chromosome, resulting in three homologous chromosomes

Gain of two homologous chromosomes, resulting in four homologous chromosomes
‘Addition of entire chromosome sets A

Polyploidy in which extra chromosome sets are derived from the same species
Polyploidy in which extra chromosome sets are derived from two or more species