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Am J Med Genet A. 2011 Nov;155A(11):2634-40. doi: 10.1002/ajmg.a.34283. Epub 2011 Oct 11.

Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13.

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1
Department of Educational Psychology and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois 62901, USA. dabruns@siu.edu

Abstract

The purpose of the study is to provide data about long-term survivors with full trisomy 13 (t13). Mothers of 30 long-term survivors with full t13 completed an online survey. Survey data were downloaded into an SPSS database. Descriptive statistics were used to analyze survey data. Tracking Rare Incidence Syndrome (TRIS) Survey data on survival, birth information including maternal and paternal age at conception, physical characteristics, and medical conditions were compared. Data indicate longer mean survival rates (48.4 months for those living at the time of data collection, 40.8 months for those who died prior) than described in the literature. Means for gestations age, birth weight, and length are 38.11 weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors presented with syndrome-related physical characteristics (e.g., low-set ears, cleft lip and palate) and medical conditions (e.g., ventricular septal defect (VSD), feeding difficulties). We conclude that data indicate longer survival and a range in birth information (gestational age, birth weight, and length) along with presence of common presenting physical characteristics and medical conditions of long-term survivors with full t13.

PMID:
21990216
DOI:
10.1002/ajmg.a.34283
[Indexed for MEDLINE]
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