Genetic haploinsufficiency as a phenotypic determinant of a deletion 13q syndrome.
Two cases of newborns with deletion 13q syndrome were identified and studied using electron microscopy and histologic, immunohistochemical, and special stained sections. We reviewed the published literature on genes that are haploinsufficient in the deletion 13q syndrome. The complexity of the deletion 13q syndrome phenotype is due at least in part to the haploinsufficiency of dosage-sensitive genes. Future studies need to be performed to identify their precise role in the cellular function and the development of the deletion 13q syndrome phenotype.
Kasyan
Armen G
AG
Department of Pathology, University of California-San Diego, University Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8321, USA. akasyan@ucsd.edu
Benirschke
Kurt
K
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D010053:Ovary / Q000002:abnormalities