Read by QxMD icon Read

Mosaicism in Trisomy 18

shared collection
1 papers 0 to 25 followers Research and Case Studies involving diagnosis of Mosaic Trisomy 18
By Victoria Miller Trisomy 18 Foundation
Neidin Bussmann, Katie Cunningham, Andrew Green, C Anthony Ryan
Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18...
2015: BMJ Case Reports
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"