Genetic and Chromosomal Conditions

Genetic and Chromosomal Conditions
Chromosomal Abnormalities
Numeric Abnormalities
● Euploid: Exact multiple of haploid number (n).

● Polyploid: More than two sets of chromosomes (e.g., 3n, 4n); often leads to
miscarriage.
● Aneuploid: Not an exact multiple of n, e.g., monosomy or trisomy.
● Mosaicism: Different cell populations with unique chromosome numbers in one person.
Structural Abnormalities
1. Deletion: Loss of chromosome part.

2. Translocation: Chromosome part moves to another chromosome.
3. Inversion: Chromosome section flips and reconnects.
4. Isochromosome: Chromosome divides abnormally.
5. Ring Chromosomes: Ends join to form a ring.
6. Duplication: Extra chromosome segment.
Patterns of Inheritance
Mendelian (Single-Gene) Disorders
1. Autosomal Dominant: One mutated gene causes disease (50% chance of passing it).
○ With conditions which are autosomal dominantly inherited the condition typically
appears to occur in all generations of a family and males and females are equally
affected
○ Examples: Huntington’s Disease, Neurofibromatosis.
○
2. Autosomal Recessive: Two mutated genes (one from each parent) needed.
○ Typically autosomal recessive conditions only affect individuals in one
generation of a family
○ Examples: Cystic Fibrosis, Sickle Cell Disease.
○
3. X-Linked Dominant: Females with one mutated X gene show symptoms.
○ A female affected by an X-linked dominant condition will transmit the condition to
50% of her sons and 50% of her daughters. A male affected by an X-linked
dominant condition will transmit the condition to all of his daughters and none of
his sons.
○ Example: Hypophosphatemic Rickets.
○
4. X-Linked Recessive: Often affects males; females typically carriers.
○ X-linked recessive conditions generally only affect males and never pass from
father to son
○ Examples: Hemophilia, Color Blindness.
○
Non-Mendelian Inheritance
● Genomic Imprinting: Some genes are expressed only from one parent.
○ Example: :Prader Willi syndrome, Angelman syndrome, BeckwithWiedemann
syndrome
○
● Mitochondrial Inheritance: Passed from mother; affects high-energy organs (heart,
muscles).
○ Example: Kearns-Sayre Syndrome.
● Multifactorial: Involves genes and environment; inheritance less predictable.
○ Example:Congenital disorders: Cleft palate, Cleft lip, Spina bifida, Pyloric
stenosis, clubfoot, Congenital hip dysplasia, cardiac defects.
Chromosomal Disorders and Syndromes

Numerical Abnormalities of Autosomes
Extra or missing copies of any of the autosomes can
arise as a result of nondisjunction occurring during meiosis, which is the process by
which the total chromosome number is halved during gamete formation.
1. Down Syndrome (Trisomy 21)

○
○ Features: Flat face, hypotonia, protruding tongue.

○ PT Focus: Build functional foundation for gross motor skills.
○
2. Patau Syndrome (Trisomy 13)
○
○ Features: CNS anomalies, cleft lip, polydactyly. Microcephaly,
holoprosencephaly, seizures, severe learning disability,
○ Outcome: Low life expectancy (130 days).
○
3. Edward’s Syndrome (Trisomy 18)
○
○ Features: Clenched hands, low-set ears, organ defects. Low birth weight, female
preponderance, small facial features, Hands:clenched with camptodactyly with
typical overlapping of the index finger over the middle finger
○ Outcome: Most affected die within the first year.
Numerical Abnormalities of Sex Chromosomes
It is unusual for abnormalities of the sex chromosome

number to be detected in newborn babies as they are not usually associated with
physical abnormalities.
4. Turner Syndrome (XO)
○
○ Features: Webbed neck, broad chest, short stature, delayed puberty, infertility,
osteoporosis risk.
○ Results when X-chromosome is missing or partially missing in women
○ NOTinherited, ONLY females affected
○ PT Focus: Support cardiovascular health, improve bone density, and manage
any orthopedic issues.
i.
5. Klinefelter Syndrome (XXY)
○ Features: Tall stature, gynecomastia, reduced body hair, infertility, language
delays, Micropenis
○ Inability to have biological children
○ PT Focus: Physical development support and addressing motor skills as
needed.
○
6. Triple X Syndrome (XXX)
○
○ Features: Tall stature, mild IQ reduction, typically normal fertility.
○ PT Focus: Support cognitive and physical development if delays are present.
○ Severity of mental retardation proportional to number of extra X chromosomes
Chromosomal Deletion syndrome
7. Cri Du Chat Syndrome (5p15.2)
○
○ Features: High-pitched cry, microcephaly, intellectual disability, low-set ears, and
distinct facial features.
○ PT Focus: Developmental support, especially in motor skills and coordination, as
well as addressing physical challenges due to low muscle tone.
8. Prader-Willi Syndrome (15q12)
○
○ Features: Obesity, overeating, type II diabetes.
○ PT Focus: Weight management, physical activity, and motor skill development.
○
9. Williams Syndrome ( 7q11.23)

Genetic and Chromosomal Conditions

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Genetic and Chromosomal Conditions

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Genetic and Chromosomal Conditions

● Euploid: Exact multiple of haploid number (n).

1. Deletion: Loss of chromosome part.

Mendelian (Single-Gene) Disorders

Chromosomal Disorders and Syndromes

1. Down Syndrome (Trisomy 21)

○ Features: Flat face, hypotonia, protruding tongue.

Numerical Abnormalities of Sex Chromosomes

It is unusual for abnormalities of the sex chromosome

4. Turner Syndrome (XO)

Chromosomal Deletion syndrome

7. Cri Du Chat Syndrome (5p15.2)

9. Williams Syndrome ( 7q11.23)

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