Familial translocation leading to partial trisomy 13: Report of three cases

1984 ◽  
Vol 51 (4) ◽  
pp. 481-487 ◽  
Author(s):  
S. A. Tharapel ◽  
R. C. Lewandowski ◽  
M. K. Kukolich
Keyword(s):  
Partial Trisomy ◽  
Trisomy 13 ◽  
Familial Translocation

The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy‐13 mosaicism: New evidences and further genetic/pathogenetic insights

2021 ◽  
Author(s):  
Riccardo Forconi ◽  
Stefania Bigoni ◽  
Lucrezia Pacetti ◽  
Cristina Host ◽  
Natale Schettini ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Partial Trisomy ◽  
Trisomy 13

Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

1977 ◽  
Vol 35 (3) ◽  
pp. 353-356 ◽  
Author(s):  
George Johnson ◽  
Ronald Bachman ◽  
Terry Roed ◽  
Peggy Riddervold
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

2005 ◽  
Vol 139A (1) ◽  
pp. 19-24 ◽  
Author(s):  
Susanne Zahn ◽  
Antje Ehrbrecht ◽  
Kristin Bosse ◽  
Vera Kalscheuer ◽  
Peter Propping ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Jacobsen Syndrome ◽  
Familial Translocation

scholarly journals Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Shana S. Dalal ◽  
Teresa Berry ◽  
Veronica Maria Pimentel
Keyword(s):  
Chromosomal Abnormalities ◽  
Partial Trisomy ◽  
Copy Number Gain ◽  
Trisomy 13 ◽  
Sacrococcygeal Teratoma ◽  
Structural Abnormality ◽  
Fetal Autopsy ◽  
Chromosome 13 ◽  
Cell Free Fetal Dna ◽  
Complex Structural

Sacrococcygeal teratoma is a rare neoplasm that arises from a totipotent stem cell in Henson’s node. It has rarely been associated with chromosomal abnormalities. We present a unique case of a 25-year-old primigravida at 19 weeks and 5 days of gestation found to have an exophytic complex mass with cystic and solid components in the sacral region. This mass was consistent with a sacrococcygeal teratoma. The patient had originally declined genetic screening. After the ultrasound and genetic counseling, she opted to have cell-free fetal DNA screening that was positive for Trisomy 13. Amniocentesis was performed to confirm the diagnosis. The karyotype demonstrated an abnormality of chromosome 13 and microarray demonstrated a complex structural abnormality of chromosome 13 with large regions of copy number gain. The patient underwent a dilation and evacuation at 23 weeks and 2 days. No fetal autopsy was done. This is a case of a prenatally diagnosed sacrococcygeal teratoma associated with Trisomy 13. It illustrates the diagnostic importance of amniocentesis in setting of fetal anatomical abnormalities on ultrasound. For patients who are reluctant to undergo amniocentesis, cell-free DNA results may provide the additional evidence of the need for diagnostic tests.

Partial trisomy 13 in a case of Cyclopia with 13/14 translocation

2008 ◽  
Vol 5 (3) ◽  
pp. 218-222 ◽  
Author(s):  
D. N. Singh ◽  
R. A. Wiscovitch ◽  
R. A. Osborne ◽  
G. R. Hennigar
Keyword(s):  
Partial Trisomy ◽  
Trisomy 13
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