Symptoms and signs
Recognised symptoms are:
Only one set of genes on the two chromosomes function (haploinsufficiency)
Thrombocytopenia-absent radius (TAR syndrome), in case of a class II-deletion
Neurological-psychiatric problems: schizophrenia; epilepsy; learning problems; cognitive disabilities — mild to moderate; developmental delay — mild to moderate (milestones like sitting, standing and walking; come at a later period in childhood); children show an ataxic gait and fall down a lot
Dysmorphism: slightly unusual facial appearance; disturbed growth; skeletal malformations; small head (microcephaly); prominent forehead; bulbous nose; deep-set eyes; broad thumbs; broad toes; squint; very flexible joints; clavicular pseudoarthrosis (the collarbone doesnt develop normally) (class II-deletion); an extra transverse crease of the fifth finger (class II-deletion)); problems with the development of the vagina (Müllerian aplasia)
Eyes: cataracts
Heart abnormalities and cardiovascular anomalies (30% of the cases): anomalous origin of the coronary artery (Class II-deletion)
Kidneys: missing kidney or floating kidneys
Cancer: neuroblastoma
Sleep disturbancesIt is not clear whether the list of symptoms is complete. Very little information is known about the syndrome. The syndrome can have completely different effects on members of the same family.A common deletion is between 1.0–1.9Mb. Mefford states that the standard for a deletion is 1.35Mb. The largest deletion seen on a living human is over 5 Mb. Cause
Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs split and a representative of each pair goes to one daughter cell. In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after being randomized.
"Blue Man Seeks Acceptance" about another victim of argyria due to colloidal silver. "Man Turns Blue", by Duncan Hooper, telegraph.co.uk, Dec. 21, 2007. "This Man Turned Blue (video)", NBC Today Show, Matt Lauer interview, aired January 7, 2008. Chemistry behind the ‘blue man’ unlocked", by Josh Howgego, Chemistry World, 1 November 2012.