...Xiaolan Fang; Benjamin Hilton; Katie Clarkson; R. Curtis Rogers; Richard Schroer; Anna Childers; Wesley G. Patterson; Jessica M. Davis; David B. Everman; Barbara R. DuPont Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental...

...David J Bunyan; James I. Hobbs; Philippa J. Duncan-Flavell; Rachel J Howarth; Sarah Beal; Diana Baralle; Nicholas Simon Thomas Transcription of SHOX is dependent upon the interaction of the gene with a complex array of flanking regulatory elements. Duplications that contain flanking regulatory...

.... Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb. 22q11.2 Duplication...

... duplication 20p11.1p12.1, found in a child presenting with mild global developmental delay, by standard karyotype and CMA. Unexpectedly, the same CNV was detected in the patient's mother and pregnant sister, who were healthy. On the basis of these results, an implication of this CNV in the neurological...

... intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Here, we report a de novo 50-bp tandem duplication in GNAS (c.723_772dup50, p.Glu259Leufs*29) identified...

...Lyvia Marlet; Eudeline Alix; Marianne Till; Fabienne Raskin-Champion; Jocelyne Attia; Dominique Boggio; Damien Sanlaville; Caroline Schluth-Bolard We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric...

..., resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications of balanced...

... variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. In this study, we identified a hitherto unreported microduplication in the AZFa region...

... on chromosome 22 include: (1) cat eye syndrome (CES), caused by extra copies of the proximal region of chromosome 22q [Berends et al., 2001]; (2) 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, VCFS) [Gothelf et al., 2009]; (3) 22q11.2 duplication syndrome [Ensenauer et al., 2003]; (4) 22q11.2...

...L. Siggberg; P. Olsén; K. Näntö-Salonen; S. Knuutila Here, we describe 2 patients with de novo genomic imbalances of 19p13.3. Using high-resolution microarray analysis, we detected a 1.25-Mb deletion in one patient and a 0.81- Mb duplication in another. The resulting phenotypes are quite different...

... delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of ∼9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available...