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Case Reports
. 2011 Mar;48(2):222-30.
doi: 10.1597/09-149. Epub 2010 May 4.

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications

Aline L Petrin, Sandra Daack-Hirsch, Jamie L'Heureux, Jeffrey C Murray
Case Reports

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications

Aline L Petrin et al. Cleft Palate Craniofac J. 2011 Mar.

Abstract

Objective: The objective of this study was to use array comparative genomic hybridization to detect causal microdeletions in samples of subjects with cleft lip and palate.

Subjects: We analyzed DNA samples from a male patient and his parents seen during surgical screening for an Operation Smile medical mission in the Philippines.

Method: We used Affymetrix® Genome-Wide Human SNP Array 6.0 followed by sequencing and quantitative polymerase chain reaction using SYBR Green I dye.

Results: We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent.

Conclusions: Our findings confirm the usefulness of a comparative genomic hybridization to detect causal microdeletions and indicate that parental somatic mosaicism should be considered in healthy parents for genetic counseling of the families. We discuss important ethical implications of sharing health impact results from research studies with the participant families.

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Figures

Figure 1
Figure 1
Phenotypic features of 3q29 microdeletion syndrome case reported by this study: (a) broad nasal root, cleft lip and palate, (b) cup shaped ears, thickened helices, (c) complete syndactyly of third and fourth toes on the right foot
Figure 1
Figure 1
Phenotypic features of 3q29 microdeletion syndrome case reported by this study: (a) broad nasal root, cleft lip and palate, (b) cup shaped ears, thickened helices, (c) complete syndactyly of third and fourth toes on the right foot
Figure 1
Figure 1
Phenotypic features of 3q29 microdeletion syndrome case reported by this study: (a) broad nasal root, cleft lip and palate, (b) cup shaped ears, thickened helices, (c) complete syndactyly of third and fourth toes on the right foot
Figure 2
Figure 2
Details of the deleted region – (A) heat map showing the deletion at the region 3q29 (red rectangle); (B) larger view of the deleted region based on UCSC Genome Browser, important genes are highlighted by red rectangles; (C) sequenced SNPs at boundaries and inside the deleted region showing mendelian inconsistency compatible with deletion on the paternal chromosome
Figure 3
Figure 3
Confirmation of the microarrays results and detection of mosaicism by quantitative PCR using 3 primers inside the deleted region and 1 primer in a normal control region. The plots show a different pattern of amplification for control, Father and proband samples. The control samples amplifies normally while the proband sample present the higher delay of amplification due to the deletion, the father presents a intermediate delay due to the presence of both deleted and normal cells supporting the hypothesis of mosaicism.
Figure 3
Figure 3
Confirmation of the microarrays results and detection of mosaicism by quantitative PCR using 3 primers inside the deleted region and 1 primer in a normal control region. The plots show a different pattern of amplification for control, Father and proband samples. The control samples amplifies normally while the proband sample present the higher delay of amplification due to the deletion, the father presents a intermediate delay due to the presence of both deleted and normal cells supporting the hypothesis of mosaicism.
Figure 3
Figure 3
Confirmation of the microarrays results and detection of mosaicism by quantitative PCR using 3 primers inside the deleted region and 1 primer in a normal control region. The plots show a different pattern of amplification for control, Father and proband samples. The control samples amplifies normally while the proband sample present the higher delay of amplification due to the deletion, the father presents a intermediate delay due to the presence of both deleted and normal cells supporting the hypothesis of mosaicism.
Figure 3
Figure 3
Confirmation of the microarrays results and detection of mosaicism by quantitative PCR using 3 primers inside the deleted region and 1 primer in a normal control region. The plots show a different pattern of amplification for control, Father and proband samples. The control samples amplifies normally while the proband sample present the higher delay of amplification due to the deletion, the father presents a intermediate delay due to the presence of both deleted and normal cells supporting the hypothesis of mosaicism.
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