Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. LeachEmma Lemyre, Janine Lewis, Azra H. Ligon, Weining Lu, Richard L. Maas, Marcy E. MacDonald, Steven D.P. Moore, Roxanna E. Peters, Bradley J. Quade, Fabiola Quintero-Rivera, Irfan Saadi, Yiping Shen, Jay Shendure, Robin E. Williamson, Cynthia C. Morton

Research output: Contribution to journalArticlepeer-review

89 Scopus citations


Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has resulted in the mapping of 77 breakpoints from 40 chromosomal rearrangements by FISH with BACs and fosmids, array CGH, Southern-blot hybridization, MLPA, RT-PCR, and suppression PCR. Eighteen chromosomal breakpoints have been cloned and sequenced. Unsuspected genomic imbalances and cryptic rearrangements were detected, but less frequently than has been reported previously. Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation.

Original languageEnglish (US)
Pages (from-to)712-722
Number of pages11
JournalAmerican journal of human genetics
Issue number3
StatePublished - Mar 3 2008
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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