An Investigation of conceptuses with placental chromosomal mosaicism for the presence of germline mosaicism
department or school: Medicine, Faculty of
department or school: Medical Genetics, Department of
data provider: DSpace
degree campus: UBCV
creator: Stavropoulos, Dimitri James
issued: 2009-03-24T22:38:45Z
issued: 1997
related degree: Master of Science - MSc
degree grantor: University of British Columbia
description: Confined placental mosaicism (CPM) is detected in approximately 1-2% of viable pregnancies and has been defined as a dichotomy between the chromosomal constitution of the placental and embryonic/fetal tissues. An investigation for the presence of trisomy in the germ cells was initiated in cases diagnosed with CPM since we suspect that the stroma of the placenta and the primordial germ cells (PGCs) have a common developmental origin. Placental and fetal tissues from one conceptus diagnosed with CPM for trisomy 7 and two conceptuses with CPM for trisomy 16, were analyzed using fluorescence in situ hybridization (FISH). Post-termination conventional cytogenetic analysis of amnion and chorionic stroma from case 1 showed only diploid cells in the amnion and mosaicism for trisomy 7 in the stroma. FISH analysis of formalin fixed - paraffin embedded tissues showed significant levels of trisomy in the placenta while all fetal tissues analyzed including testis were diploid. For Case 2, high levels of trisomy 16 were detected using FISH in both chorionic stroma and cytotrophoblast of the placenta while fetal somatic tissues where diploid. FISH analysis of meiotic oocytes showed significant levels of trisomy 16. In case 3, prenatal metaphase analysis of cytotrophoblast and stroma from chorionic villus sampling showed only 47,XX,+16. Culture of placental vill i after termination showed only trisomy 16 while cultures of multiple fetal tissues showed no evidence of trisomy. FISH analysis of formalin fixed - paraffin embedded lung and meiotic oocytes also failed to show evidence of trisomy 16. The results from Case 2 suggest that conceptuses diagnosed with mosaicism in the chorionic stroma are at risk of exhibiting chromosomal mosaicism in their germ cells. Future studies in similar cases are needed to understand the effects this may have on human fertility in the reproductive period.
aggregated CHO: https://circle.library.ubc.ca/rest/handle/2429/6439
extent: 6789015 bytes
format: application/pdf
note: An Investigation of Conceptuses with Placental Chromosomal Mosaicism for the Presence of Germline Mosaicism by Dimi t r i James Stavropoulos B.Sc. McMaster University, 1994 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE THE FACULTY OF GRADUATE STUDIES GENETICS GRADUATE PROGRAM We accept this thesis as conforming to the required standard THE UNIVERSITY OF BRITISH COLUMBIA July 1997 ^c^ Dimitri James Stavropoulos, 1997 In presenting this thesis in partial fulfilment of the requirements for an advanced degree at the University of British Columbia, I agree that the Library shall make it freely available for reference and study. I further agree that permission for extensive copying of this thesis for scholarly purposes may be granted by the head of my department or by his or her representatives. It is understood that copying or publication of this thesis for financial gain shall not be allowed without my written permission. Department The University of British Columbia Vancouver, Canada DE-6 (2/88) Abstract Confined placental mosaicism (CPM) i s detected i n approximately 1-2% of viable pregnancies and has been defined as a dichotomy between the chromosomal con s t i t u t i o n of the placental and embryonic/fetal tissues. An investigation for the presence of trisomy i n the germ c e l l s was i n i t i a t e d i n cases diagnosed with CPM since we suspect that the stroma of the placenta and the primordial germ c e l l s (PGCs) have a common developmental o r i g i n . Placental and f e t a l tissues from one conceptus diagnosed with CPM for trisomy 7 and two conceptuses with CPM for trisomy 16, were analyzed using fluorescence in situ hybridization (FISH). Post-termination conventional cytogenetic analysis of amnion and chorionic stroma from case 1 showed only d i p l o i d c e l l s i n the amnion and mosaicism for trisomy 7 i n the stroma. FISH analysis of formalin fixed - p a r a f f i n embedded tissues showed s i …
has type: Thesis/Dissertation
date issued: 1997-11
is shown at: 10.14288/1.0087966
language: eng
degree discipline: Genetics
provider: Vancouver : University of British Columbia Library
publisher: University of British Columbia
rights: For non-commercial purposes only, such as research, private study and education. Additional conditions apply, see Terms of Use https://open.library.ubc.ca/terms_of_use.
scholar level: Graduate
type: Text
identifier URI: http://hdl.handle.net/2429/6439