🧬 Turner Syndrome
Turner syndrome is a genetic condition that affects females only.
It happens when one X chromosome is missing or partly missing.
🧬 Genetic Pattern
- Females usually have: XX
- Turner syndrome: X (missing or altered second X)
This is called:
- Monosomy X
- Mosaicism (in some cases)
🎲 Causes
❌ Usually NOT inherited
✔ Happens randomly
It can occur:
- During egg formation
- During sperm formation
- Early embryo development
⏳ When It Happens
🟢 Before birth
- Condition is already present at conception
🟡 During pregnancy
- Sometimes detected in scans
🔵 After birth
- Diagnosed in childhood or puberty
🔍 Signs and Diagnosis
May be noticed due to:
- Swollen hands/feet in babies
- Slow growth
- Delayed puberty
Diagnosis:
- 🩸 Blood karyotype test
🧠 Effects
May affect:
- Growth (short stature)
- Puberty
- Fertility
- Some learning areas (e.g. maths/spatial skills)
✔ Intelligence is usually typical
🌱 Support & Outcomes
With support:
- Education improves outcomes
- Hormone treatment may help
- People can live independent lives
💡 Key Message
Turner syndrome:
- Starts before birth
- Is random
- Is not inherited
- People can live full lives with support
🧬 Klinefelter Syndrome (47,XXY)
Klinefelter syndrome is a genetic condition affecting males.
It happens when a person has an extra X chromosome.
🧬 Genetic Pattern
- Typical male: XY
- Klinefelter: XXY
🎲 Causes
❌ Not inherited in most cases
✔ Random genetic event
Occurs due to:
- Error in egg or sperm formation
- Early cell division error
🕒 When It Happens
- Before or during conception (most common)
- At fertilisation
- After conception (mosaic form)
🧪 Types
- 47,XXY (most common)
- Mosaic (46,XY / 47,XXY)
- Rare forms: 48,XXXY / 49,XXXXY
🧠 Effects
May include:
- Lower testosterone
- Learning difficulties
- Delayed development
- Fertility challenges
💡 Key Message
Klinefelter syndrome:
- Happens randomly
- Not caused by parents
- Varies between individuals
- Support improves outcomes
🧬 Williams Syndrome
Williams syndrome is a rare genetic condition that starts before birth.
It is caused by a missing section of chromosome 7 (7q11.23).
🧬 Cause
- Deletion of 26–28 genes
- Includes elastin gene
- Called a de novo mutation
❌ Not inherited in most cases
❌ Not caused by parents
🕒 When It Happens
- At conception or early embryo stage
- Present from birth
🧠 Effects
May include:
- Heart and blood vessel conditions
- Learning disabilities
- Speech delays
- Very social personality
🌟 Strengths
- Friendly
- Outgoing
- Strong social skills
💡 Key Message
Williams syndrome:
- Starts before birth
- Happens by chance
- People can live full lives with support
🧬 DiGeorge Syndrome (22q11.2 Deletion Syndrome)
DiGeorge syndrome is caused by a missing piece of chromosome 22.
🧠 Affects:
- Heart development
- Immune system
- Learning and behaviour
💡 Key Message
- Genetic condition
- Varies widely between individuals
- Early support is important
🧠 COMMON PRINCIPLES ACROSS ALL SYNDROMES
💡 Key Understanding
All syndromes:
- Are caused by genetic or chromosomal differences
- Start before birth in most cases
- Are NOT anyone’s fault
- Affect people differently
💚 Important Reminder
People with syndromes may have:
- Learning differences
- Physical differences
- Communication differences
BUT ALSO:
✔ Strengths
✔ Personality
✔ Talents
✔ Independence potential
🧬 GENERAL SUPPORT APPROACH
Support may include:
- Therapy (speech, OT, physio)
- Education support plans
- Medical monitoring
- Emotional support
🌍 CORE MESSAGE
💚 Every person is unique
💚 Diagnosis does not define ability
💚 Support changes lives
💚 Inclusion matters
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