Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability.Humans, like all sexually reproducing species, have somatic cells that are in diploid [2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies. In humans, there are 23 chromosomes, but there are two sets of them, one from mother and one from father, totaling in 46, that are arranged according to their size, function and genes they carry. Each cell is supposed to have two of each, but sometimes due to mutations or malfunctions during cell division, mistakes are made that cause serious health problems. One such error is the cause of Distal trisomy 10q disorder.Each chromosome has two arms, labeled p (for petite, or short) and q (for long). If both arms are equal in length, the chromosome is said to be metacentric. If arms lengths are unequal, chromosome is said to be submetacentric, and if p arm is so short that is hard to observe, but still present, then the chromosome is acrocentric. In Distal Trisomy 10q disorder, end or distal portion of the q (long) arm of the chromosome number 10 appears to be present three times, rather than two times as it is supposed to be. This extra arm results in chromosome 10 trisomy, meaning that three arms are present. Depending on the length of the aberrant arm, the severity can vary from case to case.
Phlegmasia cerulea dolens (PCD) (literally: painful blue inflammation), not to be confused with preceding phlegmasia alba dolens, is an uncommon severe form of lower extremity deep venous thrombosis (DVT) that obstructs blood outflow from a vein. Upper extremity PCD is less common, occurring in under 10% of all cases. PCD results from extensive thrombotic occlusion (blockage by a thrombus) of extremity veins, most commonly an "iliofemoral" DVT of the iliac vein and/or common femoral vein. It is a medical emergency requiring immediate evaluation and treatment. Symptoms and signs
Primary symptoms
It is characterized by progressive lower extremity edema distal to the thigh, tight shiny skin, cyanosis (inadequate blood oxygenation), petechiae or purpura, and sudden severe pain of the affected limb in proportion to the level of venous blockage. Patients often have difficulty walking. Blisters, bullae, paresthesias, and motor weakness may develop in severe cases, along with gangrene in ~50% of cases. Distal pulses are palpable early on but may diminish over time, and doppler signal can be usually heard throughout disease progression. The left limb is more commonly affected due to its vascular anatomy (the right internal iliac artery directly overlies the left iliac vein). Associated diseases
PCD is associated with an underlying malignancy in 20-40% of cases. There is a high risk of massive pulmonary embolism, even under anticoagulation.