scholarly journals A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability, and diabetes mellitus; A case report

2021 ◽  
Author(s):  
Taka‐aki Sakaue ◽  
Yoshinari Obata ◽  
Yuya Fujishima ◽  
Junji Kozawa ◽  
Michio Otsuki ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Intellectual Disability ◽  
Early Onset ◽  
Japanese Patient ◽  
Terminal Deletion

scholarly journals Early onset gestational diabetes mellitus: A case report and importance of early screening

2019 ◽  
Vol 8 (5) ◽  
pp. 1772
Author(s):  
Ahmad Najmi ◽  
Shubham Atal ◽  
Balakrishnan Sadasivam ◽  
Pooja Singh ◽  
Avik Ray
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Early Onset ◽  
Early Screening

scholarly journals Type 1 Diabetes Mellitus and Pernicious Anemia in an Elderly Japanese Patient: A Case Report and Literature Review

2015 ◽  
Vol 54 (18) ◽  
pp. 2361-2365 ◽  
Author(s):  
Nobumasa Ohara ◽  
Masanori Kaneko ◽  
Toshio Yano ◽  
Naoko Sato ◽  
Hiroyuki Usuda ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Case Report ◽  
Literature Review ◽  
Type 1 Diabetes Mellitus ◽  
Pernicious Anemia ◽  
Japanese Patient ◽  
Elderly Japanese

scholarly journals Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

2021 ◽  
Vol 12 ◽  
Author(s):  
Liang-Liang Fan ◽  
Yue Sheng ◽  
Chen-Yu Wang ◽  
Ya-Li Li ◽  
Ji-Shi Liu
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Candidate Genes ◽  
De Novo ◽  
Chromosome Region ◽  
Single Nucleotide Polymorphism Array ◽  
Chinese Patient ◽  
Terminal Deletion ◽  
Deletion Syndrome

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.

scholarly journals Early onset of graft glomerulopathy in a patient with post-transplant diabetes mellitus after renal transplantation: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Marilena Gregorini ◽  
Vincenzo Sepe ◽  
Francesca Eleonora Pattonieri ◽  
Anna Allesina ◽  
Teresa Rampino
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Renal Transplantation ◽  
Early Onset ◽  
Post Transplant
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