EXPORT CITATION

Chapter-25 Systemic 13q Syndrome

BOOK TITLE: Retinoblastoma

Author
1. Wells Jill R
2. Shankar Suma P
3. Hubbard III George B
ISBN
9789350257845
DOI
10.5005/jp/books/11629_25
Edition
1/e
Publishing Year
2012
Pages
5
Author Affiliations
1. The Emory Eye Center, Emory University School of Medicine, 1365B Clifton Road, N.E., Atlanta, Georgia, USA
2. The Emory Eye Center and Human Genetics, Emory University School of Medicine, 1365B Clifton Road, N.E., Atlanta, Georgia, USA
3. The Emory Eye Center, Emory University School of Medicine, 1365B Clifton Road, N.E., Atlanta, Georgia, USA
Chapter keywords

Abstract

The 13q deletion syndrome is a rare chromosomal disorder with or without retinoblastoma associated with interstitial deletions of the long arm of chromosome 13. The 13q deletion syndrome is characterized by prenatal growth retardation, microcephaly or macrocephaly, dysmorphic facial features, and central nervous system malformations with varying degrees of intellectual disability; congenital heart defects; gastrointestinal anomalies; vertebral, limb, and genitourinary malformations. Retinoblastoma occurs in individuals who have involvement of 13q14.2 region that harbors the RB1 gene. Therefore a microarray analysis is recommended in these patients to determine the breakpoints of the deletion as this will determine the patient’s predisposition to develop retinoblastoma. All individuals with retinoblastoma who have associated systemic findings or facial dysmorphism should have cytogenetic analysis by fluorescence in situ hybridization (FISH) for 13q14 or a microarray analysis to determine the exact extent of 13q deletion. Ophthalmic manifestations in addition to retinoblastoma include microphthalmos, hypertelorism, coloboma, anophthalmos, bilateral heterochromic irides, and retinal pigment variation. All patients with this syndrome need brain MRI as they may have structural brain abnormalities.

© 2019 Jaypee Brothers Medical Publishers (P) LTD.   |   All Rights Reserved