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Chromosome defects

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Last reviewed: July 2016

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Found 42 results

Trisomy disorders

Genes are the blueprint for our bodies. Almost every cell in the body has a copy of the blueprint, stored inside a sac called the nucleus. Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function.

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Angelman syndrome

Angelman syndrome is a genetic condition that is present at birth (congenital). It causes intellectual disability and other features. Other characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems and hyperactive behaviour. In most cases, the cause is a missing section (deletion) on the mother’s copy of chromosome 15.

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Williams Syndrome

Williams syndrome is a rare genetic disorder. Williams syndrome is characterised by distinctive physical features and behaviours, including a distinctive facial appearance, mild intellectual disability and an overly sociable personality.

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Chromosome Analysis (Karyotyping) - Lab Tests Online AU

To detect chromosome abnormalities, in order to help diagnose genetic diseases, some birth defects and certain haematologic and lymphoid disorders

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Cri du Chat: signs, diagnosis & support | Raising Children Network

What is Cri du Chat syndrome? This guide explains symptoms and diagnosis in children, plus government early intervention funding for Cri du Chat syndrome.

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Brain Foundation | Prader-Willi Syndrome

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Turner's syndrome - Better Health Channel

Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.

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Brain Foundation | Down Syndrome

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Klinefelter syndrome - Better Health Channel

Klinefelter syndrome is often diagnosed at puberty, when the expected physical changes don't occur.

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Fragile X Syndrome

Fragile X syndrome is a genetic disorder caused by a change to one of the genes on the X chromosome. It is the most common inherited cause of intellectual disability and the most common single gene cause of autism.

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