Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.
Intern Med
; 63(5): 687-692, 2024.
Article
in En
| MEDLINE
| ID: mdl-38432894
ABSTRACT
17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Central Nervous System Diseases
/
Dental Enamel
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Diabetes Mellitus, Type 2
/
Kidney Diseases, Cystic
Limits:
Adult
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Intern Med
/
Intern. med. (Tokyo)
/
Internal medicine (Tokyo)
Journal subject:
MEDICINA INTERNA
Year:
2024
Type:
Article
Affiliation country:
Japan