Cryptic 13q34 and 4q35.2 Deletions in an Italian Family

摘要: Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this study, we describe consequences concurrent presence interstitial deletion 13q34 and a terminal 4q35.2 Italian family. The index patient, 19-year-old male, as well his 12-year-old sister carriers both deletions, one maternal other paternal origin. phenotype includes language delay, multiorgan involvement bleeding diathesis with mild deficiency factors X VII. sister, concomitant Noonan syndrome may partly explain symptoms. deleted region on 13 involves several genes (ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1); some these seem role proband's phenotype. contains OMIM (FRG1, FRG2 DBET); moreover, 4q is reported susceptibility locus for Crohn's disease, diagnosed father. To our knowledge, first report family 2 submicroscopic We tried relate proband molecular function involved genes.