| Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant. | |
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MedLine Citation:
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PMID: 19657992 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive defects associated with this disease. Cardiomegaly and placentomegaly were the only evidence of fetal hydrops. Postnatal karyotype revealed mosaicism for trisomy 7, yet another rare finding in a live-born. The authors discuss their institutional experience with each of these rare conditions and the potential contribution of each to the overall unusual clinical presentation in this patient. This is the first report of these simultaneous diagnoses. |
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Authors:
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Fabiola Quintero-Rivera; Paula Abreu-E-Lima; Inga Hofmann Zhang; Mana M Parast |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric hematology and oncology Volume: 26 ISSN: 1521-0669 ISO Abbreviation: Pediatr Hematol Oncol Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-08-06 Completed Date: 2009-10-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8700164 Medline TA: Pediatr Hematol Oncol Country: England |
Other Details:
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Languages: eng Pagination: 426-31 Citation Subset: IM |
Affiliation:
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Department of Pathology, Division of Cytogenetics, Brigham and Women's Hospital, Boston, Massachusetts, USA. fquintero@mednet.ucla.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Chromosomes, Human, Pair 7 / genetics* Fatal Outcome Female Homozygote Humans Hydrops Fetalis / genetics Infant Male Mosaicism* Pregnancy Trisomy / genetics* Ultrasonography, Prenatal alpha-Thalassemia / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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