2025 Genetic abnormalities by Paris Farr

what causes it

parisfarr1 — 2024-07-21 23:41:10 UTC

Down syndrome is caused by a genetic condition where a person has an extra copy of chromosome 21. This extra genetic material affects development and causes the physical and intellectual traits associated with the syndrome. It occurs randomly during cell division.

signs and symptoms

parisfarr1 — 2024-07-21 23:41:10 UTC

karyotype

parisfarr1 — 2024-07-21 23:41:10 UTC

How common is it in Australia?

parisfarr1 — 2024-07-21 23:41:10 UTC

In Australia, about 265 babies with Down syndrome are born each year—around 1 in 1,100 births. An estimated 13,000–15,000 people live with the condition nationwide, with average life expectancy now reaching around 60 years.

what causes it

parisfarr1 — 2024-07-21 23:41:10 UTC

Wolf-Hirschhorn syndrome is a genetic condition that is caused by missing genes on chromosome 4. Another name for the gene is 4p-syndrome.

signs and symptoms

parisfarr1 — 2024-07-21 23:41:10 UTC

Symptoms of

Wolf-Hirschhorn syndrome affect the child's body.

Facial: cleft lip, asymmetrical facial features, flat nasal bridge, high forehead, malformed ears, missing teeth, small chin, small head, wide set/bulging eyes.
Growth and Development: weak muscle tone/underdeveloped muscles, delayed developmental milestones (sitting, walking, standing), problems feeding, trouble gaining weight.
Brain: intellectual disabilities, seizures.
Body symptoms: curve of spines (scoliosis or kyphosis), dry skin, heart growth complications, immune system deficiency, kidney function problems, vision problems, problems in the urinary tract and reproductive organ.

How common is it in Australia?

parisfarr1 — 2024-07-21 23:41:10 UTC

The prevalence of Wolf-Hishhorn syndrome is roughly 1 in 50,000 births. It occurs in about twice as many females as males.

karyotype

parisfarr1 — 2024-07-21 23:41:10 UTC

What causes it?

parisfarr1 — 2024-07-21 23:41:10 UTC

Klinefelter syndrome is caused by the additional presence of an X sex chromosome, instead of the typically XY sex chromosomes present a males' sex chromosomes. Meaning their 23rd chromosome is XXY.

Karyotype

parisfarr1 — 2024-07-21 23:41:10 UTC

How common is it in Australia?

parisfarr1 — 2024-07-21 23:41:10 UTC

1 or 2 in 1000 males born in Australia diagnosed each year with Klinefelter syndrome. Males can only be effected by Klinefelter syndrome as it is the addition on an X chromosome. With males having XY, the addition of the X chromosome doesn't effect the gender produced.

Signs and symptoms

parisfarr1 — 2024-07-21 23:41:10 UTC

What causes it

parisfarr1 — 2024-07-21 23:41:10 UTC

Triple X syndrome is caused by a random error in cell division during the formation of egg or sperm cells, resulting in an extra X chromosome in a females' cells.

Karyotype

parisfarr1 — 2024-07-21 23:41:10 UTC

How common is it in Australia?

parisfarr1 — 2024-07-21 23:41:10 UTC

Triple X syndrome, according to Mayo Clinic, 'affects about 1 in 1,000 females' within Australia.

Signs and Symptoms

parisfarr1 — 2024-07-21 23:41:10 UTC

What causes it

parisfarr1 — 2024-07-21 23:41:10 UTC

Turner Syndrome occurs when a female has only one X chromosome, or when an X chromosome is half missing.

Karyotype

parisfarr1 — 2024-07-21 23:41:10 UTC

How common is it in Australia?

parisfarr1 — 2024-07-21 23:41:10 UTC

Turner Syndrome affects around 1 in 2000 females born in Australia. Females can only have Turner syndrome, as it's caused by a missing X chromosome.

Signs & symptoms

parisfarr1 — 2024-07-21 23:41:10 UTC

Physical features include short stature, webbed neck, low hairline, and swelling in the hands and feet.

Developmental issues include ovarian failure (causing infertility), kidney problems, heart problems, and hearing or vision impairments.