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deletion

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Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
10.1159/000375208
EISBN: 978-3-318-03004-4
... Abstract The 22q11.2 deletion syndrome is most commonly characterized by facial dysmorphia, palate anomalies, immunodeficiency, hypocalcemia, conotruncal and related cardiac defects, as well as behavioral and psychiatric disorders. A patient may present with just a few features and only come...
Book Chapter
Book Chapter
Book Chapter
Series: Genome Dynamics
Volume: 1
Published: 27 March 2006
10.1159/000092498
EISBN: 978-3-318-01290-3
... Abstract Translocations and gross deletions constitute an important cause of both cancer andinherited disease. Such gene rearrangements are non-randomly distributed in the humangenome as a consequence of selection for growth advantage and/or the inherent potentialof some DNA sequences...
Book Chapter
Book Chapter
Series: Monographs in Human Genetics
Volume: 16
Published: 17 April 2008
10.1159/000126547
EISBN: 978-3-8055-8521-7
... Abstract Duplicated sequences such as the NF1REPs and the SUZ12 sequences located withinthe NF1 gene region predispose to gross NF1 deletions, which constitute the most frequentrecurrent mutations in NF1. Type-1 deletions of 1.4 Mb are mediated by non-allelic homologousrecombination (NAHR...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477278
EISBN: 978-3-318-06098-0
... Abstract In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
EISBN: 978-3-318-03004-4
... ML, Emanuel BS: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924-933. 4. Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R: Microdeletions within 22q11 associated with sporadic and familial...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
10.1159/000375209
EISBN: 978-3-318-03004-4
... for approximately one tenth of all cardiac malformations. In addition, genomic disorders often resulting from instability of the regional genomic architecture, constitute a major fraction of CVM. These events are usually submicroscopic, and are observed as genomic deletions and/or duplications. The widespread use...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287603
EISBN: 978-3-8055-9281-9
... Abstract The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232). It was identified by the detection of a cytogenetic rearrangement in advance of its...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287600
EISBN: 978-3-8055-9281-9
... and, based on this technology, numerous mental retardation-related unbalanced chromosome aberrations such as deletions, duplications, translocations and inversions have been reported and categorized [ 5 ]. Conventional cytogenetic analysis uses light microscopy with a maximum resolution of 5-10 megabases...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
EISBN: 978-3-318-06098-0
... Chapelle A, Weissenbach J: A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 1986;38:109-124. 5. Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G: A deletion map of the human Yq11 region: implications for the evolution...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287602
EISBN: 978-3-8055-9281-9
... retardation using genome wide detection methods, cohorts with patients affected by autism and schizophrenia have been analyzed using the same technology. We first describe the chromosomal regions affected in all three disorders. Chromosome 22q11.2 Deletion Syndrome The 22q11.2 deletion is perhaps...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287601
EISBN: 978-3-8055-9281-9
... disomy, are demonstrated by means of clinical examples. Historical Overview Traditionally, karyotyping has been performed for the genome wide detection of chromosomal imbalances, such as aneuploidy, deletions and duplications. Conventional karyotyping has been the method of choice for five...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287595
EISBN: 978-3-8055-9281-9
... Abstract Mental retardation (MR) has many different genetic causes, ranging from single gene to whole-chromosome changes. Some of the chromosomal changes underlying MR are recurrent submicroscopic deletions and duplications. These events result from non-allelic homologous recombination...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000319987
EISBN: 978-3-8055-9595-7
... of chromosomal aberrations, mainly deletions and duplications, have been described in association with craniosynostosis, including deletions 2q, 3p, 7p, 9p, 11p and duplications 1q, 5q, 13q and 15q [ 25 - 33 ]. This mechanism contributes to explain approximately 16% of syndromic craniosynostosis. Our current...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... translocation t(13;15): dosage effect of IGF1R?. Am J Med Genet 2002;113:173-177 26. Schwyzer U, Binkert F, Caflisch U, Baumgartner B, Schinzel A: Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome. Helv Paediatr Acta 1987;42:309-315 27. Huret JL, Leonard C...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
...References References 1. Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, et al: 22q13 deletion syndrome. Am J Med Genet 2001;101:91-99 2. Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS: A familial pericentric inversion of chromosome 22 with a recombinant subject...
Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
EISBN: 978-3-318-03004-4
... clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A 2010;152A:1951-1959. 19. Heilstedt HA, Ballif BC, Howard LA, et al: Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
..., Minier SL, Theisen A, Bejjani BA, Shaffer LG: The clinical utility of enhanced subtelomeric coverage in array CGH. Am J Med Genet A 2007;143:1850-1857 16. Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, et al: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization...