2q31.2q32.3 deletion syndrome: Report of an adult patient

2009 ◽  
Vol 149A (4) ◽  
pp. 706-712 ◽  
Author(s):  
Paolo Prontera ◽  
Laura Bernardini ◽  
Gabriela Stangoni ◽  
Anna Capalbo ◽  
Daniela Rogaia ◽  
...  
Keyword(s):  
Adult Patient ◽  
Deletion Syndrome ◽  
Syndrome Report

scholarly journals Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature

2020 ◽  
Vol 29 (3) ◽  
pp. 127-131
Author(s):  
Priyanka Upadhyai ◽  
Eram Fatima Amiri ◽  
Vishal Singh Guleria ◽  
Stephanie L. Bielas ◽  
Katta Mohan Girisha ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Review Of Literature ◽  
Variable Expression ◽  
1Q21.1 Deletion ◽  
Syndrome Report

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

2019 ◽  
Vol 45 (4) ◽  
pp. 923-926 ◽  
Author(s):  
Annisa S. L. Mak ◽  
Teresa W. L. Ma ◽  
Kelvin Y. K. Chan ◽  
Anita S. Y. Kan ◽  
Mary H. Y. Tang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Deletion Syndrome ◽  
5P Deletion ◽  
Syndrome Report

Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature

2004 ◽  
Vol 96 (3) ◽  
pp. 477-480 ◽  
Author(s):  
Meng-Luen Lee ◽  
Lon-Yen Tsao ◽  
Bao-Tyan Wang ◽  
Mei-Huei Lee ◽  
Ing-Sh Chiu
Keyword(s):  
English Literature ◽  
Deletion Syndrome ◽  
Chromosome 1P36 ◽  
Syndrome Report

Chromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings

2012 ◽  
Vol 33 (4) ◽  
pp. 240-248 ◽  
Author(s):  
Francis Beby ◽  
Vincent Des Portes ◽  
Marianne Till ◽  
Carmine Mottolese ◽  
Philippe Denis
Keyword(s):  
Optic Disc ◽  
Deletion Syndrome ◽  
Optic Disc Coloboma ◽  
Syndrome Report

scholarly journals Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

2012 ◽  
Vol 5 (1) ◽  
pp. 25 ◽  
Author(s):  
Susana Ferreira ◽  
Eunice Matoso ◽  
Margarida Venâncio ◽  
Jorge Saraiva ◽  
Joana B Melo ◽  
...  
Keyword(s):  
Critical Region ◽  
Alagille Syndrome ◽  
Deletion Syndrome ◽  
Syndrome Report

scholarly journals Collaboration of perioperative management in an adult patient with 22 q 11.2 deletion syndrome: A case report

2021 ◽  
Author(s):  
Mikiko Ito ◽  
Tatsuya Tokura ◽  
Tomoya Miyauchi ◽  
Aiji Sato (Boku) ◽  
Hiroyuki Kimura ◽  
...  
Keyword(s):  
Case Report ◽  
Adult Patient ◽  
Multidisciplinary Team ◽  
Genetic Disease ◽  
Perioperative Management ◽  
High Rate ◽  
Deletion Syndrome ◽  
Team Approach ◽  
Multidisciplinary Team Approach ◽  
Physical Diseases

22 q 11.2 deletion syndrome is a genetic disease associated with a high rate of various psychiatric disorders in addition to multiple physical diseases. This case report suggested that a multidisciplinary team approach is important for perioperative management of patient with 22 q 11.2 deletion syndrome.

scholarly journals An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

2015 ◽  
Vol 3 ◽  
pp. 36-38 ◽  
Author(s):  
Yasutaka Tastuzawa ◽  
Kanako Sekinaka ◽  
Tetsufumi Suda ◽  
Hiroshi Matsumoto ◽  
Hiroyuki Otabe ◽  
...  
Keyword(s):  
Adult Patient ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9p- constitution due to a paternal t(9p-; 15q+) translocation

2008 ◽  
Vol 8 (5) ◽  
pp. 349-357 ◽  
Author(s):  
E. Orye ◽  
H. Verhaaren ◽  
A. M. Van den Bogaert-Van Heesvelde
Keyword(s):  
Deletion Syndrome ◽  
Syndrome Report
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