A child presents with a depletion in chromosome 5 leading to developmental delays, what syndrome associated with this genetic abnormality?
Added by Jes-S R.
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Step 1: Identify the chromosomal abnormality as a deletion on the short arm of chromosome 5 (5p deletion, 5p-). Show more…
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Look at the following karyotype of a young male, aged 5 months old: a. The diagram is highlighting a specific portion of a chromosome in this karyotype. Presuming that there was an abnormality in a gene detected at this chromosomal location, what autosomal disease would be indicated?
Adi S.
Angelman's syndrome is a neurogenetic disorder characterized by, among other things, intellectual and developmental delay. A defining feature of Angelman's is frequent laughter accompanied by an overall happy demeanor. This disorder is caused by a deletion in chromosome 15 inherited maternally. Prader-Willi syndrome is a genetic disorder which is often mistaken for Down syndrome and includes as its symptoms obesity, behavioral problems, learning disabilities, and, in infants, failure to thrive. Prader-Willi syndrome is caused by the same deletion as Angelman's but occurs when the deletion is inherited paternally. If a person has Angelman's syndrome, it can be known that they inherited a mutation in chromosome 15 from
A missing piece of chromosome 5 may result in a child whose glottis and larynx do not develop properly, resulting in an abnormal cry. This is called Huntington syndrome. Klinefelter syndrome. cri du chat syndrome. Down syndrome. inv dup 15 syndrome.
Shaiju T.
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