What disorder is caused by the deletion of part of short arm chromosome?
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What disorder is caused by the deletion of part of short arm chromosome?
Cri du chat syndrome – also known as 5p- syndrome and cat cry syndrome – is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5.
What is 18q deletion syndrome symptoms?
Some common features of distal 18q deletion syndrome include short stature (often due to growth hormone deficiency), weak muscle tone (hypotonia), hearing loss due to ear canals that are narrow (aural stenosis) or absent (aural atresia), and foot abnormalities such as an inward or upward-turning foot (clubfoot ) or …
What is deletion 4p syndrome?
The 4p deletion syndrome is a rare deletion syndrome with a poor neurodevelopmental outcome, seizures, and distinct facial features. • The diagnosis should be considered when early-onset IUGR is associated with signs consistent with the characteristic facial features.
What does DiGeorge syndrome look like?
Symptoms and Causes In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes.
What is the wolf syndrome?
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures.
What is Pitt Rogers Danks syndrome?
Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported.
What is Herbert syndrome?
Wolf–Hirschhorn syndrome (WHS) is a condition that causes malformations in many parts of the body due to a genetic chromosome deletion. The syndrome was first defined in 1961 by Herbert L. Cooper and Kurt Hirschhorn who described a child with a distinct facial appearance.
