Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report

2019 ◽  
Vol 37 (5) ◽  
pp. 512-521
Author(s):  
Rose Montplaisir ◽  
Erica Lee ◽  
Daniel Moreno‐De‐Luca ◽  
Wade C. Myers
Keyword(s):  
Case Report ◽  
Capital Crimes ◽  
Mosaic Trisomy

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

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

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

2014 ◽  
Vol 164 (12) ◽  
pp. 3187-3193 ◽  
Author(s):  
Folasade I. Kehinde ◽  
Carol E. Anderson ◽  
Jane E. McGowan ◽  
Reena N. Jethva ◽  
Mohammed A. Wahab ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Female Case ◽  
Mosaic Trisomy

G480(P) Case report: Mosaic trisomy 21 turner syndrome

2016 ◽  
Vol 101 (Suppl 1) ◽  
pp. A284.2-A285
Author(s):  
K McCarthy ◽  
AS Griffiths ◽  
N McCallion
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Trisomy 21 ◽  
Mosaic Trisomy

Early detection of Emanuel syndrome: a case report

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Taddei Edoardo ◽  
Sartori Elena ◽  
Raio Bulgheroni Luigi ◽  
Papadia Andrea
Keyword(s):  
Case Report ◽  
Early Detection ◽  
Correct Diagnosis ◽  
In Utero ◽  
Postmortem Examination ◽  
Effective Management ◽  
Case Presentation ◽  
Anatomical Difference ◽  
Emanuel Syndrome ◽  
Mosaic Trisomy

AbstractObjectivesEmanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies.Case presentationHere, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination.ConclusionsEvery anatomical difference should always be further investigated in order to achieve the correct diagnosis.

scholarly journals Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

2021 ◽  
Author(s):  
Melab Musabi ◽  
Ayman Saker ◽  
Jessi Baer ◽  
Peter Wang ◽  
Chitra Prasad ◽  
...  
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Management ◽  
Clinical Course ◽  
Unbalanced Translocation ◽  
Paternal Origin ◽  
Chromosomal Disorder ◽  
Rare Diagnosis ◽  
Mosaic Trisomy

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

Prenatal diagnosis of mosaic trisomy 13: a case report

1998 ◽  
Vol 18 (9) ◽  
pp. 971-974 ◽  
Author(s):  
S. R. Eubanks ◽  
J. A. Kuller ◽  
D. Amjadi ◽  
C. M. Powell
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Trisomy 13 ◽  
Mosaic Trisomy

scholarly journals Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report

2018 ◽  
Vol 33 (2) ◽  
pp. e22663 ◽  
Author(s):  
Samira Kalayinia ◽  
Tina Shahani ◽  
Alireza Biglari ◽  
Majid Maleki ◽  
Hassan Rokni-Zadeh ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
Mosaic Trisomy
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