scholarly journals Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

2021 ◽  
Author(s):  
Sarah M. Beaudry ◽  
Oleg Shchelochkov ◽  
Pamela Trapane ◽  
Benjamin Darbro ◽  
Jaime M. W. Nagy
Keyword(s):  
Case Report ◽  
Chromosome 9 ◽  
Trisomy 9 ◽  
Mosaic Trisomy ◽  
Isodicentric Chromosome

Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review

2003 ◽  
Vol 14 (1) ◽  
pp. 65-69 ◽  
Author(s):  
F. Stipoljev ◽  
M. Kos ◽  
M. Kos ◽  
B. Miskovi ◽  
R. Matijevic ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Trisomy 9 ◽  
Antenatal Detection ◽  
Mosaic Trisomy

17. In silico SNP array for aiding in interpretation of genomic microarray results: Application to case of mosaic trisomy 9

2021 ◽  
Vol 252-253 ◽  
pp. S6
Author(s):  
Timothy Fee ◽  
David B. Everman ◽  
Benjamin A. Hilton ◽  
Barbara DuPont
Keyword(s):  
In Silico ◽  
Snp Array ◽  
Trisomy 9 ◽  
Genomic Microarray ◽  
Mosaic Trisomy

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

2018 ◽  
Vol 156 (4) ◽  
pp. 179-184
Author(s):  
Vida Čulić ◽  
Ruzica Lasan-Trcić ◽  
Thomas Liehr ◽  
Igor N. Lebedev ◽  
Maja Pivić ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 9 ◽  
Chromosome 15 ◽  
Normal Female ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 9

We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

Prenatally diagnosed mosaic trisomy 17: a case report with two-year follow-up

2005 ◽  
Vol 25 (10) ◽  
pp. 968-969 ◽  
Author(s):  
Debra J. Abrams ◽  
Ann Marie Augustyn ◽  
Mark R. Geier
Keyword(s):  
Case Report ◽  
Mosaic Trisomy

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Review Of The Literature ◽  
Dysmorphic Features

Partial mosaic trisomy 5: A new case report with ocular involvement

2009 ◽  
Vol 32 (8) ◽  
pp. 533-539 ◽  
Author(s):  
Z. Schlegel ◽  
A. Valent ◽  
A. Hirsch
Keyword(s):  
Case Report ◽  
Ocular Involvement ◽  
Mosaic Trisomy

A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9

1996 ◽  
Vol 16 (4) ◽  
pp. 371-374 ◽  
Author(s):  
TRACY A. WILKINSON ◽  
ROWENA S. JAMES ◽  
JOHN A. CROLLA ◽  
ANNETTE E. COCKWELL ◽  
PAUL L. CAMPBELL ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 9 ◽  
Maternal Uniparental Disomy ◽  
Trisomy 9 ◽  
Placental Mosaicism

scholarly journals Establishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo

2015 ◽  
Vol 54 (5) ◽  
pp. 505-511 ◽  
Author(s):  
Boxian Huang ◽  
Chunyan Jiang ◽  
Aiqin Chen ◽  
Yugui Cui ◽  
Jiazi Xie ◽  
...  
Keyword(s):  
Stem Cell ◽  
Embryonic Stem Cell ◽  
Cell Line ◽  
Human Embryonic Stem Cell ◽  
Embryonic Stem Cell Line ◽  
Embryonic Stem ◽  
Stem Cell Line ◽  
Trisomy 9 ◽  
Mosaic Trisomy
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