Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment

2021 ◽  
pp. 104408
Author(s):  
Kamlesh Madan ◽  
Konstantin Miller
Keyword(s):  
Partial Trisomy

Patau syndrome [partial trisomy]: a case study

2014 ◽  
Vol 8 (2) ◽  
Author(s):  
RUDRAGOUDA S BULAGOUDA ◽  
B.M BANNU R ◽  
KEERTI K ◽  
BHEEMSHETTY S. PATIL ◽  
GURUSHANTAPPA S KADAKOL
Keyword(s):  
Partial Trisomy ◽  
Patau Syndrome

Partial trisomy 1q due to tandem duplication

2008 ◽  
Vol 15 (6) ◽  
pp. 541-542 ◽  
Author(s):  
Sibylle Flatz ◽  
Christa Fonatsch ◽  
Christa Fonatsch
Keyword(s):  
Tandem Duplication ◽  
Partial Trisomy

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

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.

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

Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies

2007 ◽  
Vol 50 (2) ◽  
pp. 103-111 ◽  
Author(s):  
Giuseppina Fogu ◽  
Pasquale Bandiera ◽  
Francesca Cambosu ◽  
Anna Rita Carta ◽  
Laura Pilo ◽  
...  
Keyword(s):  
Partial Trisomy

Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia

2007 ◽  
Vol 82 (3) ◽  
pp. 239-241
Author(s):  
Anna Lauda-Świeciak ◽  
Olga Haus ◽  
Danuta Kurylak ◽  
Ewa Duszeńko ◽  
Krystyna Soszyńska
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Severe Mental Retardation

New findings in partial trisomy 16q: clinical report

2004 ◽  
Vol 93 (6) ◽  
pp. 852-854 ◽  
Author(s):  
B Sousa ◽  
G Rocha ◽  
S Doria ◽  
JR Alves ◽  
B Guedes ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Clinical Report ◽  
New Findings

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
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