Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Abstract

Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR. In addition, in the present study three patients were mosaic for a structural chromosome rearrangement. One of these patients had monosomy 7 in as few as 8% of the cells, showing that array CGH allows detection of low grade mosaicisims.

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

“…DNA from the patient was compared with DNA from two other patients with different diseases, according to the loop model. 21 Genomic Workbench software, standard edition 6.5 (Agilent Technologies) was used to interpret the results with the following parameters: aberration algorithm ADM-2, threshold 6.0, fuzzy zero, centralization and moving average window 0.5 and 1 Mb. A copy number variation (CNV) was noted if at least three contiguous oligonucleotides showed an abnormal log2 ratio (4 þ 0.5 or o À0.5 according to the Alexa 5 deviation, red curve) with a mirror image.…”

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

“…[1][2][3][4] Although some of the relatively larger CNVs have been associated with recognizable genomic disorders, [5][6][7][8][9][10][11][12] others have been implicated in causation of clinically overlapping neuro-developmental phenotypes, including autism spectrum disorders (ASDs), developmental delay (DD), and intellectual disability (ID). [13][14][15][16][17][18][19] More recently, smaller deletions or intragenic deletions disrupting a single gene have been associated with neurodevelopmental phenotypes. [19][20][21][22] Increasing the number of array probes provides higher resolution and can hence detect such smaller CNVs.…”

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

“…DNA from Case 1 was hybridized to a custom BAC array, with clones spaced at approximately 1 Mb intervals throughout the genome, according to the protocol of Menten et al 22 Regions were scored as copy number variants if one clone passed the threshold of 4ÂSD, and if two or more flanking clones passed the threshold of log 2 (3/2)À2ÂSD. 23 DNA from Case 2 was hybridized to a custom BAC-emulated oligonucleotide array (Agilent Technologies, Santa Clara, CA, USA).…”