Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

• Main Authors: Meck Jeanne M (Author), Brooks Brian P (Author), Haddad Bassem R (Author), Bendavid Claude (Author), Blain Delphine (Author), Toretsky Jeffrey A (Author)
• Format: Book
• Published: BMC, 2006-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p> <p>A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5^thfingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence <it>in situ</it> hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.</p> <p>Conclusion</p> <p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.</p>

Item Description

10.1186/1471-2350-7-2
1471-2350