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Case Reports
. 2016 Jul;170(7):1938-41.
doi: 10.1002/ajmg.a.37679. Epub 2016 May 6.

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Ho-Ming Luk  1 , Fai-Man Ivan Lo  1 , Shinichiro Sano  2   3 , Keiko Matsubara  2 , Akie Nakamura  2 , Tsutomu Ogata  2   3 , Masayo Kagami  2
Affiliations
Case Reports

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Ho-Ming Luk et al. Am J Med Genet A. 2016 Jul.
No abstract available

Keywords: Silver-Russell syndrome; somatic mosaicism; upd(11)mat.

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Figures

Figure 1
Figure 1
Clinical findings of this patient. (A) Photographs. Facial features at 1 month of age and 2 years of age, asymmetric feet, and left fifth finger clinodactyly. (B) Growth charts. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga].
Figure 2
Figure 2
Molecular findings of this patient. (A) MS‐MLPA findings. In the upper diagram, paternally and maternally expressed genes are shown in blue and red, respectively; filled and open circles denote methylate and unmethylated DMRs, respectively. The mean values of three control subjects have been utilized for the assessment of relative copy number and methylation index (MI, the ratio of methylated clones). (B) Pyrosequencing analysis. For methylation analysis of the H19‐DMR, a segment encompassing 20 CpG dinucleotides was PCR‐amplified with F1 and R1 primers, and a sequence primer (S1) was hybridized to a single‐stranded PCR products. Subsequently, the methylation indices were obtained for four CpG dinucleotides (CG1–CG4) (indicated with a green rectangle). The Kv‐DMR was similarly examined using F2 and R2 primers and S2, and the MIs were obtained for CG5–CG10 (indicated with a green rectangle). The control data indicate the median (minimum–maximum). L, leukocytes; and B, buccal cells. (C) Microsatellite analysis. Maternally and paternally derived peaks are denoted with red stars and blue asterisks, respectively. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga].
See this image and copyright information in PMC

References

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