Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

• Published in: American journal of medical genetics. Part A Vol. 158A; no. 6; pp. 1395 - 1399
• Main Authors: Michelson, Marina, Ben-Sasson, Anat, Vinkler, Chana, Leshinsky-Silver, Esther, Netzer, Ifat, Frumkin, Ayala, Kivity, Sara, Lerman-Sagie, Tally, Lev, Dorit
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: 6q25 microdeletion; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult and adolescent clinical studies; Arm; Biological and medical sciences; Brain - pathology; CGH-microarray; Chromosome Deletion; Chromosomes, Human, Pair 6; Comparative Genomic Hybridization; dysgenesis of corpus callosum; Facies; Humans; In Situ Hybridization, Fluorescence; Infant; Intellectual deficiency; intellectual disability; Male; Medical genetics; Medical sciences; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Genetic mapping; Handicap; Microdeletion; Critical region; 6q25 microdeletion; Developmental disorder; CGH-microarray; Chromosome C6; Mental retardation; Corpus callosum; dysgenesis of corpus callosum; Intellectual deficiency; Interstitial; intellectual disability
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.35361

Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, this is a recognizable microdeletion syndrome associated with intellectual disability (ID), acquired microcephaly, typical dysmorphic features, structural anomalies of the brain, and nonspecific multiple organ anomalies. Most of the reported cases have cytogenetically visible interstitial deletions or subtelomeric microdeletions. We report on a boy with global developmental delay, distinct dysmorphic features, dysgenesis of the corpus callosum, limb anomalies, and genital hypoplasia who has a small interstitial deletion of the long arm of chromosome 6 detected by comparative genomic hybridization (CGH). The deleted region spans around 1 Mb of DNA and contains only two coding genes, ARID1B and ZDHHC14. To the best of our knowledge, this case represents the typical phenotype with the smallest deletion reported so far. We discuss the possible role of these genes in the phenotypic manifestations. © 2012 Wiley Periodicals, Inc.