New findings in partial trisomy 16q: clinical report

• Type: Another Publication in an International Scientific Journal
• Date: 2004

Authors

sousa, b (Author) Other; rocha, g (Author) Other; doria, s (Author) FMUP; alves, jr (Author) Other; guedes, b (Author) Other; guimaraes, h (Author) FMUP

Journal

Title: Acta Paediatrica

Vol. 93

Pages: 852-854

ISSN: 0803-5253

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 9 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-000-A0H

DOI: 10.1111/j.1651-2227.2004.tb03032.x

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

No. of pages: 4