(Small amounts of a fetuss DNA escapes through the placenta to circulate in the mothers blood.) A genome-wide association study done in China used genome-wide cfDNA analyses to diagnose various chromosome-related disorders including PKS. The study scanned the DNA in the blood of 29,007 pregnant women and found three cases with abnormal amount of DNA originating from the entire p-arm of chromosome 12. All three cases were confirmed to have a fetus with PKS. Two of these cases were missed by chromosomal microarray analysis of the placenta and chorionic villi. However, the study did not define the rate of false negative cases, i.e. negative results in women actually carrying a fetus with PKS. While further studies are required, this method may turn out to be a critically useful addition for the prenatal detection of PKS, particularly during early pregnancies for the purpose of pregnancy options counseling. Postnatal diagnosis
The postnatal diagnosis of PKS is strongly suggested or indicated in most cases based on finding the key defects of PKS in an individual on physical examination and various radiography, ultrasound, and related methods. However, some individuals with this syndrome do not have a sufficient number of these defects or have a set of defects that are also compatible with other birth defect disorders such as Fryns syndrome, trisomy 12p, and Sifrim-Hitz-Weiss syndrome (also termed CHD4 Neurodevelopmental Disorder). The diagnosis can be confirmed in these cases as well as in all cases of PKS by detecting its sSMC using special methods.
Pallor is a pale color of the skin that can be caused by illness, emotional shock or stress, stimulant use, or anemia, and is the result of a reduced amount of oxyhaemoglobin and may also be visible as pallor of the conjunctivae of the eyes on physical examination. Pallor is more evident on the face and palms. It can develop suddenly or gradually, depending on the cause. It is not usually clinically significant unless it is accompanied by a general pallor (pale lips, tongue, palms, mouth and other regions with mucous membranes). It is distinguished from similar presentations such as hypopigmentation (lack or loss of skin pigment) or simply a fair complexion. Causes
migraine attack or headache
excess estradiol and/or estrone
osteoporosis
emotional response, due to fear, embarrassment, grief, rage
anorexia
anemia, due to blood loss, poor nutrition, or underlying disease such as sickle cell anemia
iron deficiency
vitamin B12 deficiency
shock, a medical emergency caused by illness or injury
acute compartment syndrome
frostbite
common cold
cancer
hypoglycaemia
bradycardia
panic attack
medications
ketorolac
amphetamines
ethanol
cannabis
lead poisoning
motion sickness
heart disease
Peripheral vascular disease
hypothyroidism
hypopituitarism
scurvy
tuberculosis
sleep deprivation
pheochromocytoma
squeamishness
visceral larva migrans
Orthostatic hypotension
methyldopa
loss of appetite
Space adaptation syndrome
fibromyalgia
Buergers disease
Hypovolemia

References


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