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What disorder is Monosomy 3?

What disorder is Monosomy 3?

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly.

What disorder is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What is Phelan-McDermid Syndrome?

3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13. 3. The features of 22q13. 3 deletion syndrome vary widely and involve many parts of the body.

What is a chromosome 3 mutation?

Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3.

What does the 3 chromosome do?

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells….

Chromosome 3
GenBank CM000665 (FASTA)

What is an interstitial deletion of a chromosome?

An interstitial deletion means that the chromosome has broken in two places and the broken ends have fused, leaving out the deleted segment. The size of the missing piece varies between different individuals. Sources and references

Where is the deletion of chromosome 3 located?

People with this condition are missing genetic material located on the short arm (p) of chromosome 3 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved.

Is there a new version of Gard for chromosome 3p partial deletion?

We are currently developing a new version of GARD. This site is in-development and may not reflect the final version. Chromosome 3p partial deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 3 in each cell.

What is a 1p interstitial deletion?

A blood test to check both parents’ chromosomes is needed to find out why the 1p deletion occurred in the child. Most 1p interstitial deletions occur when both parents have normal chromosomes. The term that geneticists use for this is de novo (dn), meaning ‘new’.