Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad fingertip, broad hallux, mandibular prognathia and dental malocclusion. Karyotype and interphase FISH (Fluorescence in situ hybridization) was done in blood cells. Interphase FISH was also performed on buccal epithelial cells. Cytogenetic analysis demonstrated trisomy 13 mosaicism in 25% cells i.e. 47, XX,+13(9)/46,XX(27). The interphase FISH in blood cells showed trisomy 13 in 15%, whereas in buccal mucosa cells showed nearly 6%. Mosaic aneuploidy in constitutional karyotype can be responsible for variation in clinical and morphological presentation of patient with genetic disorder.
...
PMID:Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. 2713 97

Trisomy 13 is a chromosomal disorder that occurs in complete or partial mosaic forms. It is characterized by central apnea, mental retardation, seizure and congenital heart disease. The survival of the patients with trisomy 13 is the majority dying before one month. Trisomy 13 is the worst life prognosis among all trisomy syndromes. It is reported the cause of death is central apnea. Special needs patients with mental retardation are recognized to have poorer oral health condition. Oral health related quality of life reflects daily activity and well-being. Dental treatment under general anesthesia is sometimes an option for such patients. This patient had received ventricular septal defect closure surgery at 2-year-old. In addition, he had mental retardation and seizure. Dental treatment had been completed without any cerebral and cardiovascular events under non-invasive monitoring with not only cardiac electric velocimetry, but also epileptogenic activity. In addition, postoperative respiratory condition was maintained stable in room air.
 ...
PMID:The Anesthetic Management for a Patient With Trisomy 13. 2885 51


<< Previous 1 2