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Case Reports
. 2009 Aug;149A(8):1842-5.
doi: 10.1002/ajmg.a.32980.

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

Chad R Haldeman-Englert  1 , Taiyabah Naeem, Elizabeth A Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L Davidson, Matthew A Deardorff, Elaine H Zackai, Tamim H Shaikh
Affiliations
Case Reports

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

Chad R Haldeman-Englert et al. Am J Med Genet A. 2009 Aug.
No abstract available

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Figures

Figure 1
Figure 1. Photographs of the patient at age 7 months
Dysmorphic features included frontal prominence with occipital flattening, corneal clouding, upslanting palpebral fissures, hypertelorism, small and low-set ears with thickened and protuberant helices, and a thin upper lip with an exaggerated Cupid's bow.
Figure 1
Figure 1. Photographs of the patient at age 7 months
Dysmorphic features included frontal prominence with occipital flattening, corneal clouding, upslanting palpebral fissures, hypertelorism, small and low-set ears with thickened and protuberant helices, and a thin upper lip with an exaggerated Cupid's bow.
Figure 2
Figure 2. Microarray results
An Affymetrix SNP6.0 microarray detected a heterozygous 781-kb deletion of 13q12.3 (arrow). Analysis of the deletion coordinates in the UCSC Genome Browser (http://genome.ucsc.edu) showed five genes to be affected, including B3GALTL. Overlap of our patient's deletion is shown compared to one previously described in two brothers with Peters plus syndrome [Lesnick Oberstein et al., 2006].
See this image and copyright information in PMC

References

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