Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q

2003 ◽  
Vol 123A (2) ◽  
pp. 164-168 ◽  
Author(s):  
Nata?a Mar?un Varda ◽  
N. Kokalj Voka? ◽  
Z. Kani? ◽  
K. Bra?i? ◽  
A. Erjavec ◽  
...  
Keyword(s):  
Renal Insufficiency ◽  
De Novo ◽  
Partial Trisomy ◽  
Chromosome 10Q

scholarly journals De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Claudia Brogna ◽  
Valentina Milano ◽  
Barbara Brogna ◽  
Lara Cristiano ◽  
Giuseppe Rovere ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Partial Trisomy ◽  
Cerebral Vasculitis ◽  
Radiological Findings ◽  
Cerebral Lesions ◽  
Brain Malformations ◽  
Vermian Hypoplasia ◽  
Callosal Dysgenesis ◽  
First Time

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

scholarly journals Clinical Manifestations of Partial Trisomy 4p

2010 ◽  
Vol 13 (2) ◽  
pp. 61-63
Author(s):  
O Demirhan ◽  
F Özgünen ◽  
D Taştemir
Keyword(s):  
De Novo ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Defect Analysis ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Dysmorphic Features ◽  
Severe Growth ◽  
Lung And Kidney

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization

2006 ◽  
Vol 49 (3) ◽  
pp. 225-234 ◽  
Author(s):  
Ulrike Gamerdinger ◽  
Kristin Bosse ◽  
Thomas Eggermann ◽  
Vera Kalscheuer ◽  
Gesa Schwanitz ◽  
...  
Keyword(s):  
De Novo ◽  
Partial Trisomy ◽  
Phenotypic Characterization ◽  
First Report ◽  
Breakpoint Determination
Sign in / Sign up

Export Citation Format

Share Document