The array CGH and its clinical applications
Array comparative genomic hybridization (aCGH) is a technique enabling high-resolution,
genome-wide screening of segmental genomic copy number variations (CNVs). It is …
genome-wide screening of segmental genomic copy number variations (CNVs). It is …
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review
PA Lennon, ML Cooper, DA Peiffer… - American journal of …, 2007 - Wiley Online Library
We report on a young male with moderate mental retardation, dysmorphic features, and
language delay who is deleted for 7q31. 1‐7q31. 31. His full karyotype is 46, XY, der (7) del …
language delay who is deleted for 7q31. 1‐7q31. 31. His full karyotype is 46, XY, der (7) del …
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed
imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple …
imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple …
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont… - Nature …, 2008 - nature.com
Abstract Chromosome region 1q21. 1 contains extensive and complex low-copy repeats,
and copy number variants (CNVs) in this region have recently been reported in association …
and copy number variants (CNVs) in this region have recently been reported in association …
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
DA Peiffer, JM Le, FJ Steemers, W Chang… - Genome …, 2006 - genome.cshlp.org
Array-CGH is a powerful tool for the detection of chromosomal aberrations. The introduction
of high-density SNP genotyping technology to genomic profiling, termed SNP-CGH …
of high-density SNP genotyping technology to genomic profiling, termed SNP-CGH …
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …
with autism and developmental delay. Method We indentified 27 deletions and 18 …
[HTML][HTML] Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …
have been observed in genomic disorders. Recently, a chromosome catastrophe …
[PDF][PDF] Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other …
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare,
neonatally lethal developmental disorder of the lung with defining histologic abnormalities …
neonatally lethal developmental disorder of the lung with defining histologic abnormalities …
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a
spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for …
spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for …
[HTML][HTML] TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
Background Congenital scoliosis is a common type of vertebral malformation. Genetic
susceptibility has been implicated in congenital scoliosis. Methods We evaluated 161 Han …
susceptibility has been implicated in congenital scoliosis. Methods We evaluated 161 Han …