Retinal detachment in an infant with the ring chromosome 13 syndrome

Abstract

ABSTRACT.Purpose: To inform about retinal detachment in an infant with the ring chromosome 13 as a possible new feature of this syndrome. The finding is able to imitate retinoblastoma, which is closely connected to the deletion of 13q14. Methods: We report on a girl with many congenital anomalies including hypoplasia of both optic discs and chorioretinal coloboma of the right eye. Chromosomal analysis revealed karyotype 46 XX with a ring chromosome 13. The patient was examined again at 15 months of age, where leukocoria was disclosed in the left eye, emerging from a retrolental greyish-white mass. Even though neither sonography nor CT showed a typical picture for retinoblastoma, this tumor could not be ruled out. Enucleation of the left eye was performed. The globe was then investigated histopathologically. Results: No tumor was found in the removed eye. Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. Conclusions:The possibility of retinal detachment should be included into differential diagnoses in infants with ring 13 chromosome in cases with a nonspecific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies

“…The cases most similar to our patient [Voullaire et al, 1991;Bamforth and Lin, 1997] had a mosaic partial monosomy 13q and are listed as Group A. Other related cases include: Group B, nonmosaic rearrangements (rings or deletions) that lead to a net deletion for distal 13q [Raizman, 1987;Brown et al, 1993;Filous et al, 1998;Stoll and Alembik, 1998;Heaven et al, 2000]; Group C, mosaicism for a distal 13q deletion with another cell line that is monosomic for 13 [Brandt et al, 1992;Goldsmith et al, 1993;Guala et al, 1997;Boduroglu et al, 1998]; and Group D, complex chromosome rearrangements that result in mosaicism for partial duplications and partial deletions of chromosome 13 [Jalal et al, 1990;Gentile et al, 1999].…”

“…The first category includes cases that involve a mosaic deletion 13, similar to our patient [Voullaire et al, 1991;Bamforth and Lin, 1997]. Another category involves non-mosaic deletions of 13q [Raizman, 1987;Brown et al, 1993;Filous et al, 1998;Stoll and Alembik, 1998;Heaven et al, 2000]. Given that complete monosomy 13 is not seen in live births, it follows that patients with large deletions of 13q have very severe, often lethal birth defects [Brown et al, 1993].…”

“…Given that complete monosomy 13 is not seen in live births, it follows that patients with large deletions of 13q have very severe, often lethal birth defects [Brown et al, 1993]. Some of the patients in this category have a chromosome 13 deletion due to a ring formation like that of our patient [Raizman, 1987;Brown et al, 1993;Filous et al, 1998;Heaven et al, 2000]. A third category consists of patients with either a ring chromosome 13 or a deletion of chromosome 13 in a cell line, as well as a monosomy 13 cell line [Brandt et al, 1992;Goldsmith et al, 1993;Guala et al, 1997;Boduroglu et al, 1998].…”

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

“…Ring chromosome 13 [r(13)] in human has been well described in the literature during the past two decades (Bedoyan et al, 2004;Boduroglu et al, 1998;Brandt et al, 1992;Chen et al, 2001;DocoFenzy et al, 1994;Filous et al, 1998;Fryns et al, 1998;Gentile et al, 1999;Guala et al, 1997;Heaven et al, 2000;Hou et al, 1992;Liang et al, 2004;Liao et al, 2011;Morrissette et al, 2001;Ruiz Del Prado et al, 2001;Sankar and Phadke, 2006;Talvik et al, 2000;Venugopalan and Kenue, 2001;Walczak-Sztulpa et al, 2008). However, reported patients with r(13) presented different phenotypic abnormalities according to different breakpoints.…”

Ring Chromosome 13 in an Infant Girl

“…Group III is characterized by re noblastoma 9 . Other associa on with the syndrome includes re nal detachment 10 , imperforate anus, iris coloboma, and developmental anomalies of the brain 11 .…”