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New findings in partial trisomy 16q: clinical report

Title
New findings in partial trisomy 16q: clinical report
Type
Another Publication in an International Scientific Journal
Year
2004
Authors
sousa, b
(Author)
Other
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rocha, g
(Author)
Other
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doria, s
(Author)
FMUP
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alves, jr
(Author)
Other
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guedes, b
(Author)
Other
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guimaraes, h
(Author)
FMUP
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Journal
Title: Acta PaediatricaImported from Authenticus Search for Journal Publications
Vol. 93
Pages: 852-854
ISSN: 0803-5253
Publisher: Wiley-Blackwell
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-000-A0H
Abstract (EN): Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia. Conclusion: Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.
Language: English
Type (Professor's evaluation): Scientific
Contact: gusrocha@oninet.pt
No. of pages: 4
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