dc.contributor.author | Balci, S. | |
dc.contributor.author | Altugan, F.S. | |
dc.contributor.author | Alehan, D. | |
dc.contributor.author | Aypar, E. | |
dc.contributor.author | Baltaci, V. | |
dc.date.accessioned | 2022-03-10T19:38:55Z | |
dc.date.available | 2022-03-10T19:38:55Z | |
dc.date.issued | 2009 | |
dc.identifier.issn | 10158146 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14065/3487 | |
dc.description.abstract | A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome. | en_US |
dc.language.iso | eng | en_US |
dc.relation.ispartof | Genetic Counseling | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | 22q11.2 microdeletion | en_US |
dc.subject | DiGeorge syndrome | en_US |
dc.subject | Hypoparathyroidism | en_US |
dc.subject | Mosaic type trisomy 21 | en_US |
dc.subject | calcitriol | en_US |
dc.subject | calcium | en_US |
dc.subject | gluconate calcium | en_US |
dc.subject | parathyroid hormone | en_US |
dc.subject | aorta anomaly | en_US |
dc.subject | article | en_US |
dc.subject | calcium blood level | en_US |
dc.subject | case report | en_US |
dc.subject | chromosome 22q | en_US |
dc.subject | chromosome analysis | en_US |
dc.subject | chromosome deletion | en_US |
dc.subject | convulsion | en_US |
dc.subject | DiGeorge syndrome | en_US |
dc.subject | echocardiography | en_US |
dc.subject | family history | en_US |
dc.subject | female | en_US |
dc.subject | fetus echography | en_US |
dc.subject | fluorescence in situ hybridization | en_US |
dc.subject | heart ventricle septum defect | en_US |
dc.subject | human | en_US |
dc.subject | hypocalcemia | en_US |
dc.subject | hypoparathyroidism | en_US |
dc.subject | infant | en_US |
dc.subject | mosaic type trisomy 21 | en_US |
dc.subject | parathyroid hormone blood level | en_US |
dc.subject | pregnancy outcome | en_US |
dc.subject | prenatal diagnosis | en_US |
dc.subject | pulmonary valve stenosis | en_US |
dc.subject | thymus aplasia | en_US |
dc.subject | trisomy 21 | en_US |
dc.subject | ureteropelvic junction obstruction | en_US |
dc.subject | DiGeorge Syndrome | en_US |
dc.subject | Down Syndrome | en_US |
dc.subject | Female | en_US |
dc.subject | Humans | en_US |
dc.subject | Hypoparathyroidism | en_US |
dc.subject | Infant | en_US |
dc.subject | Maternal Age | en_US |
dc.subject | Mosaicism | en_US |
dc.subject | Pregnancy | en_US |
dc.subject | Prenatal Diagnosis | en_US |
dc.subject | Turkey | en_US |
dc.title | A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/diGeorge syndrome | en_US |
dc.type | article | en_US |
dc.department | Ufuk Üniversitesi | en_US |
dc.identifier.volume | 20 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.startpage | 373 | en_US |
dc.identifier.endpage | 377 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.authorscopusid | 7005672303 | |
dc.authorscopusid | 9743449900 | |
dc.authorscopusid | 7003880235 | |
dc.authorscopusid | 6508044109 | |
dc.authorscopusid | 6701789739 | |
dc.identifier.scopus | 2-s2.0-76049098831 | en_US |
dc.identifier.pmid | 20162873 | en_US |