Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

2011 ◽  
Vol 133 (1) ◽  
pp. 78-83 ◽  
Author(s):  
R. Quiroga ◽  
S. Monfort ◽  
S. Oltra ◽  
I. Ferrer-Bolufer ◽  
M. Roselló ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Partial Duplication ◽  
Normal Phenotype ◽  
Edwards Syndrome

scholarly journals Complex Cardiac Defect in a Fetus with Trisomy 18: A Case Report

2017 ◽  
Vol 02 (01) ◽  
pp. 068-071
Author(s):  
Shagun Aggarwal
Keyword(s):  
Case Report ◽  
Bladder Outlet Obstruction ◽  
Outlet Obstruction ◽  
Esophageal Stenosis ◽  
Trisomy 18 ◽  
Cardiac Defect ◽  
Edwards Syndrome ◽  
The Family ◽  
Syndromic Diagnosis ◽  
Antenatal Detection

AbstractThis is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appropriate genetic counseling of the family and guidance for prenatal diagnosis in subsequent pregnancies.

Partial duplication of Xp: A case report and review of previously reported cases

1991 ◽  
Vol 40 (3) ◽  
pp. 280-283 ◽  
Author(s):  
Herman E. Wyandt ◽  
Lucille Bugeau-Michaud ◽  
James C. Skare ◽  
Aubrey Milunsky
Keyword(s):  
Case Report ◽  
Partial Duplication

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

scholarly journals New mechanism of partial duplication and deletion of chromosome 8: A case report

2021 ◽  
Vol 9 (24) ◽  
pp. 7139-7145
Author(s):  
Yan Jiang ◽  
Shuang Tang ◽  
Fang He ◽  
Jue-Xin Yuan ◽  
Zhu Zhang
Keyword(s):  
Case Report ◽  
Chromosome 8 ◽  
Partial Duplication

scholarly journals HIGHER RIGHT KIDNEY AND PARTIAL DUPLICATION OF LEFT URETER: A CASE REPORT

2017 ◽  
Vol 5 (2.2) ◽  
pp. 3788-3790
Author(s):  
Chiman Kumari ◽  
◽  
Rohini Motwani ◽  
Saroj Kaler Jhajhria ◽  
Neerja Rani ◽  
...  
Keyword(s):  
Case Report ◽  
Left Ureter ◽  
Partial Duplication

scholarly journals Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2009 ◽  
Vol 2009 (jan21 1) ◽  
pp. bcr0820080665-bcr0820080665
Author(s):  
C Orellana ◽  
J. Bernabeu ◽  
S. Monfort ◽  
M. Rosello ◽  
J. S. Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

Microdeletion 4p16.3 that includes Wolf-Hirschhorn syndrome critical region – A case report

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
KS Brocke ◽  
K Hackmann ◽  
S Tinschert ◽  
K Prokop ◽  
C Ikonomidou ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region
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