Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

2007 ◽  
Vol 143A (13) ◽  
pp. 1431-1441 ◽  
Author(s):  
Swaroop Aradhya ◽  
Melanie A. Manning ◽  
Alessandra Splendore ◽  
Athena M. Cherry
Keyword(s):  
Mental Retardation ◽  
Developmental Delay ◽  
Array Cgh ◽  
Whole Genome ◽  
Gene Deletions ◽  
Dysmorphic Features ◽  
Contiguous Gene ◽  
Genome Array

scholarly journals Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

2012 ◽  
Vol 113 (4) ◽  
pp. 279-288
Author(s):  
V. Cabras ◽  
A. Milia ◽  
C. Montaldo ◽  
Anna Lisa Nucaro
Keyword(s):  
Mental Retardation ◽  
Chromosomal Aberrations ◽  
Reliable Method ◽  
Array Cgh ◽  
Chromosomal Rearrangements ◽  
Phenotype Correlation ◽  
Dysmorphic Features ◽  
Genome Wide ◽  
Genome Array ◽  
Idiopathic Mental Retardation

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

scholarly journals Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

2007 ◽  
Vol 118 (1) ◽  
pp. 1-7 ◽  
Author(s):  
A.-C. Thuresson ◽  
M.-L. Bondeson ◽  
C. Edeby ◽  
P. Ellis ◽  
C. Langford ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Whole Genome ◽  
Chromosomal Imbalances ◽  
Genome Array

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH

2009 ◽  
Vol 152A (1) ◽  
pp. 234-236 ◽  
Author(s):  
Anna Lisa Nucaro ◽  
Melania Falchi ◽  
Tiziana Pisano ◽  
Rossano Rossino ◽  
Francesca Boscarelli ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Unusual Case ◽  
Array Cgh ◽  
Ring Chromosome ◽  
Chromosome 14 ◽  
Genome Array

OC20.06: Whole-genome array CGH in fetuses with major malformations: a Danish study

2012 ◽  
Vol 40 (S1) ◽  
pp. 41-41
Author(s):  
E. Vestergaard ◽  
R. Christensen ◽  
O. B. Petersen ◽  
I. Vogel
Keyword(s):  
Array Cgh ◽  
Whole Genome ◽  
Genome Array ◽  
Danish Study

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

2011 ◽  
Vol 59 (6) ◽  
pp. 309-313
Author(s):  
A. Debost-Legrand ◽  
Y. Capri ◽  
L. Gouas ◽  
C. Pebrel-Richard ◽  
L. Veronese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Unbalanced Translocation ◽  
Dysmorphic Features
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