Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

2008 ◽  
Vol 122 (2) ◽  
pp. 181-187 ◽  
Author(s):  
S. Xu ◽  
J.C. Han ◽  
A. Morales ◽  
C.M. Menzie ◽  
K. Williams ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Wagr Syndrome

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

Gene ◽  
2012 ◽  
Vol 504 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Chiara Palka-Bayard-de-Volo ◽  
Stefania De Marco ◽  
Valentina Chiavaroli ◽  
Melissa Alfonsi ◽  
Giuseppe Calabrese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Array Cgh ◽  
De Novo

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

scholarly journals Use of array CGH for molecular characterization of genetic disorders

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P1
Author(s):  
Ashish Bahal ◽  
Rajitha P Null ◽  
Ashwin Dalal
Keyword(s):  
Molecular Characterization ◽  
Array Cgh ◽  
Genetic Disorders

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH

2012 ◽  
Vol 53 (3) ◽  
pp. 285-288 ◽  
Author(s):  
Chiara Donatella Viaggi ◽  
Simona Cavani ◽  
Mauro Pierluigi ◽  
Vincenzo Antona ◽  
Ettore Piro ◽  
...  
Keyword(s):  
Array Cgh ◽  
Complex Rearrangement
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