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


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


METHODS
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.
Petrin
Aline L
AL
Daack-Hirsch
Sandra
S
L'Heureux
Jamie
J
Murray
Jeffrey C
JC
D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D010679:Philippines; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction