Trisomy 15 mosaicism owing to familial reciprocal translocation t (1; 15): implication for prenatal diagnosis
P Prontera, B Buldrini, V Aiello… - … in Affiliation With the …, 2006 - Wiley Online Library
… Since the pachytene configuration of the translocated chromosomes defines a high probability
of … trisomy 15 mosaicism that originated from a familial balanced reciprocal translocation. …
of … trisomy 15 mosaicism that originated from a familial balanced reciprocal translocation. …
Mosaicism and clinical genetics
NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
… It has been shown that a chromosomally abnormal placenta might have implications for …
Confined placental mosaicism can have implications for prenatal testing, especially in the …
Confined placental mosaicism can have implications for prenatal testing, especially in the …
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): reproductive implications, frequency and mechanism
M Garzo, I Catusi, DM Colombo, L De Grada… - European Journal of …, 2020 - Elsevier
… We document the clinical implications of BRTM, discuss its frequency in our referred
population and suggest that carrier individuals might be more frequent than expected. …
population and suggest that carrier individuals might be more frequent than expected. …
Familial Turner syndrome with an X; Y translocation mosaicism: implications for genetic counseling
MF Portnoï, S Chantot-Bastaraud… - European Journal of …, 2012 - Elsevier
… with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner
syndrome with mosaicism for a novel X;Y translocation … of the maternal translocation with an …
syndrome with mosaicism for a novel X;Y translocation … of the maternal translocation with an …
[HTML][HTML] Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis
FR Grati - Journal of clinical medicine, 2014 - mdpi.com
… of the different types of mosaicism (confined placental, CPM, … The implications of the presence
of a feto-placental mosaicism … for reciprocal and robertsonian translocations are rare [75] …
of a feto-placental mosaicism … for reciprocal and robertsonian translocations are rare [75] …
Somatic mosaicism: implications for disease and transmission genetics
… of mosaicism for disease-associated CNV is a balance between the rate of postzygotic
mutagenesis and milder mosaicism-associated phenotypes that evade clinical ascertainment. …
mutagenesis and milder mosaicism-associated phenotypes that evade clinical ascertainment. …
[HTML][HTML] Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
B Bianco, MVN Lipay, AD Guedes, ITN Verreschi - Fertility and sterility, 2008 - Elsevier
… low-frequency mosaicism, small nonfluorescent marker chromosomes, translocation of Y
material onto … with structural aberrations, and mosaicism that is restricted to certain tissues (7). …
material onto … with structural aberrations, and mosaicism that is restricted to certain tissues (7). …
[PDF][PDF] First cryptic balanced reciprocal translocation mosaicism and familial transmission
C Dupont, A Delahaye, L Burglen, AC Tabet… - American Journal of …, 2008 - academia.edu
… Here we report on a clinical review and cytogenetic results of an inherited cryptic translocation
t(9;22)(q34.3;q13.3) in a family. It was found in a mosaic state in the grandmother of an …
t(9;22)(q34.3;q13.3) in a family. It was found in a mosaic state in the grandmother of an …
Mechanisms and consequences of somatic mosaicism in humans
H Youssoufian, RE Pyeritz - Nature Reviews Genetics, 2002 - nature.com
… For example, genetic translocations that are diagnostic of certain leukaemic … mosaicism
and genetic reversions. In addition, these observations have important clinical implications in the …
and genetic reversions. In addition, these observations have important clinical implications in the …
Mosaicism in rare disease
BE Avigdor, IA Osei-Owusu, J Pevsner - Genomics of rare diseases, 2021 - Elsevier
… Mosaicism is the presence of two or more genomes in an individual derived from a single
zygote. Mosaicism may occur in germ cells (germline mosaicism), … Mosaicism may also occur in …
zygote. Mosaicism may occur in germ cells (germline mosaicism), … Mosaicism may also occur in …
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