| A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome. | |
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MedLine Citation:
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PMID: 20162873 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Balci; F S Altugan; D Alehan; E Aypar; V Baltaci |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 20 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2009 |
Date Detail:
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Created Date: 2010-02-18 Completed Date: 2010-03-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 373-7 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Hospital, 06100, Sihhiye, Ankara, Turkey. sbalci@hacettepe.edu.tr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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DiGeorge Syndrome*
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diagnosis Down Syndrome* / diagnosis Female Humans Hypoparathyroidism Infant Maternal Age Mosaicism Pregnancy Prenatal Diagnosis Turkey |
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