D Trisomy syndrome was identified by the Wisconsin group led by Patau in 1960. They identified an additional chromosome in group D (13-15) in a newborn baby with multiple congenital abnormalities.
The neuropathological signs include defects in craniofacial development and the forebrain cleavage of the baby. It also comes with extra fingers or limbs, congenital cataracts, small or underdeveloped eyes, retro flexible thumbs, simian palmar creases, ventricular septal defect, cleft lip, and palate.
According to studies conducted in the 1960s, the main pattern of malformations and deformities in these severely deformed neonates is caused by a specific autosome of the D group (13-15). In the majority of all reported cases, these deformed babies have the same patterns and defects. In addition, the mortality rate of the patients with this syndrome is approximately 50%, in which newborn babies die in the first week of their life.
The survival of the babies born with this syndrome is so low the longest life span recorded is only one year. Though cases may vary from patient to patient, the pattern of abnormalities is specific enough to recognize the clinical studies conducted.
