Coriell Institute
The Chromosome 18q- Deletion Collection
A Resource for Genotype/Phenotype Studies and Gene Discovery

Clinical Synopsis
Bin Map

The 18q deletion (18q-) syndrome (OMIM #601808), caused by deletion of the distal long arm of chromosome 18 is a terminal deficiency or macrodeletion syndrome characterized by mental retardation and congenital malformations. It can be interpreted as having its basis in haploinsufficiency of multiple genes. The phenotype is highly variable, but is characterized by mental retardation, short stature, hypotonia, hearing impairment, and foot deformities. The syndrome is often accompanied by selective IgA deficiency and associated autoimmune disease. The contribution of individual genes within the region to specific phenotypic features can be modeled, because the occurrence or severity of these symptoms correlate with the extent of the deletion. The power of such studies depends on the size, diversity, and level of characterization of the study population. For some time the NIGMS Repository has held and distributed twenty 18q- lymphoblastoid cell lines (LCLs) and seven (7) human-rodent somatic cell hybrids (SCHs) which include the 18q- deletion chromosome. Now with the acquisition of a unique collection of seventy seven (77)18q- (LCLs) and twenty seven (27) SCHs from Dr. Joan Overhauser this particular NIGMS resource is greatly enhanced.

The value of the newly acquired materials lies in the extensive characterization of their deletion breakpoints by molecular cytogenetics and molecular genetic methods, together with the detailed clinical documentation of the donor phenotypes that is available. Given the great diversity of phenotypes encompassed in this condition this collection is the definitive resource for genotype-phenotype studies of the 18q deletion syndrome, and also for gene discovery.

The materials are presented so that the chromosomal, molecular and clinical data of each incremental 18q- deletion are displayed together for review.


  1. Kline AD, Rojas K, Mewar R, Moshinsky D, Overhauser J. Somatic cell hybrid deletion map of human chromosome 18. Genomics 13: 1-6 (1992). PMID: 1577474
  2. Mewar R, Harrison W, Overhauser J. Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization. Cytogenet Cell Genet. 64: 1-4 (1993). PMID: 8508672
  3. Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet. 52: 895-906 (1993). PMID: 8488839
  4. Mewar R, Kline AD, Harrison W, Rojas K, Greenberg F, Overhauser J. Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am J Hum Genet. 53: 1269-1278 (1993). PMID: 8250043
  5. Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet. 55: 476-483 (1994). PMID: 8079991
  6. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet. 59: 476-483 (1995). PMID: 8585568
  7. Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V. A new deletion of 18q23 with few typical features of the 18q- syndrome. J Med Genet. 33: 240-243 (1996). PMID: 8728701
  8. Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM. Neuropsychiatry of 18q- syndrome. Am J Med Genet. 67: 172-178 (1996). PMID: 8723044
  9. Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J. Molecular characterization of patients with 18q23 deletions. Am J Hum Genet. 60: 860-868 (1997). PMID: 9106532
  10. Katz SG, Schneider SS, Bartuski A, Trask BJ, Massa H, Overhauser J, Lalande M, Lansdorp PM, Silverman GA. An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet. 8: 87-92 (1999). PMID: 9887335

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