Results 191 to 200 of about 18,812 (235)

Concurrent microdeletion and duplication of 22q11.2

Clinical Genetics, 2008
Microduplication of 22q11.2 has been reported in fewer than 40 cases, all of them including the DiGeorge critical region (DGCR). We here present the characterization of a new duplication that does not include the DGCR. The duplication was initially found by multiplex ligation‐dependent probe amplification analysis of 22q11.2 in a young girl with a ...
E, Blennow, K, Lagerstedt, H, Malmgren, S, Sahlén, J, Schoumans, Bm, Anderlid   +5 more
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16q22.1 microdeletion and anticipatory guidance

American Journal of Medical Genetics Part A, 2019
AbstractThe widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion‐associated syndromes and has identified possible genetic causes for patients with previously unexplained clinical features.
Sarah Abdullah, Mayada Helal, Lucie Dupuis, D. James Stavropoulos, Pedro Louro, Lina Ramos, Roberto Mendoza‐Londono   +6 more
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[22q11.2 microdeletion].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010
22q11.2 deletion syndrome (22q11DS), most frequently caused by a de novo microdeletion on the long arm of chromosome 22, is one of the most common neurogenetic syndromes. The cognitive and behavioral characteristics associated with the 22q11.2 phenotype can be quite heterogeneous, part of the reason the syndrome is often detected very late, if at all ...
Schneider M, Eliez S
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Prenatal diagnosis of 22q11 microdeletion

Prenatal Diagnosis, 1997
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic.
A, Levy-Mozziconacci, C, Piquet, P C, Heurtevin, N, Philip   +3 more
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Chromosomal microdeletions

Neurology, 2009
Genetic testing is now routine in the diagnostic workup of many diseases. Mutations of a single or just a few adjacent nucleotides can easily be determined by PCR amplification and sequencing, whereas numerical and larger structural chromosome abnormalities comprising several million base pairs can be detected on a microscopic level by conventional ...
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การจำแนกการแลกเปลี่ยนชิ้นส่วนของโครโมโซมที่ไม่ชัดเจนในผู้ป่วยในกลุ่มอาการ microdeletion

2013
1, 6, Thai Journal of ...
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Microdeletion 22q11.2: clinical data and deletion size

Journal of Medical Genetics, 1999
Editor—Ninety probands with microdeletion 22 were ascertained at The Hospital for Sick Children, Toronto, between 1 January 1994 and 1 June 1997. All patients had been karyotyped by G banding and were found to have a 46,XX or 46,XY karyotype except for one patient who had a de novo unbalanced translocation: 45,XY,der(6) t(6;22)(p25;q11.2)/45,XY,der(6)t(
Kerstjens-Frederikse, WS, Kurahashi, H, Driscoll, DA, Budarf, ML, Emanuel, BS, Beatty, B, Scheidl, T, Siegel-Bartelt, J, Henderson, K, Cytrynbaum, C, Nie, G, Teshima, [No Value]   +11 more
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Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions

European Journal of Human Genetics, 2007
Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes ...
Ruti, Parvari, Eli, Hershkovitz
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An Additional Patient With 3q27.3 Microdeletion Syndrome

Journal of Child Neurology, 2014
The 3q27.3 microdeletion syndrome has been recently delineated in 7 subjects from 5 families sharing a 1.4 Mb smallest region of overlap. This condition appears recognizable by the association of Marfanoid habitus, mild but distinctive facial dysmorphism, intellectual disability, psychosis, and mood disorder. Here, we describe an additional 17-year-old
Castori M, BOTTILLO, IRENE, LAINO, LUIGI, Morlino S, Grammatico B, GRAMMATICO, Paola   +5 more
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Microdeletion 22q11 and oesophageal atresia.

Journal of medical genetics, 1999
Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 ...
M. C. Digilio, MARINO TAUSSIG DE BODONIA, Bruno, P. Bagolan, A. Giannotti, B. Dallapiccola   +4 more
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