Academic Journal
DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability
| العنوان: | DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability |
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| المؤلفون: | ÇAĞDAŞ AYVAZ, DENİZ NAZİRE, Dizdar, Evrim Alyamac, Beser, Esra, Sari, Fatma Nur, Dokuzboy, Refika Sirma |
| سنة النشر: | 2022 |
| الوصف: | We report a female infant with complete DiGeorge syndrome who has craniofacial and skeletal abnormalities, feeding problems, cardiac defect, hypocalcemia induced seizure, thymic aplasia, and severe combined immune deficiency. Her mother also had a partial type of disease and was diagnosed at the same time with her baby. FISH analysis of both mother and the infant revealed a deletion in 22q11.2. This family's findings indicate that 22q11 deletion syndrome is a genetic condition with wide interfamilial and intrafamilial variability in clinical expression. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.12996/gmj.2022.40 |
| الاتاحة: | https://doi.org/10.12996/gmj.2022.40 https://avesis.hacettepe.edu.tr/publication/details/a0761ccf-fce9-4bbc-a63f-c0244d434409/oai |
| Rights: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.B73A3E9D |
| قاعدة البيانات: | BASE |
| DOI: | 10.12996/gmj.2022.40 |
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