Cargando…

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could...

Descripción completa

Detalles Bibliográficos
Autores principales:	Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Formato:	Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2007
Materias:	Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600/ https://www.ncbi.nlm.nih.gov/pubmed/17932688 http://dx.doi.org/10.1007/s00431-007-0616-7

Ejemplares similares

CGHPRO – A comprehensive data analysis tool for array CGH
por: Chen, Wei, et al.
Publicado: (2005)

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
por: Tayebi, Naeimeh, et al.
Publicado: (2014)

Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
por: STREAȚĂ, I., et al.
Publicado: (2016)

Further clinical and molecular delineation of the 15q24 microdeletion syndrome
por: Mefford, Heather C, et al.
Publicado: (2011)

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism()
por: Hoppe, Anne, et al.
Publicado: (2014)

MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
por: Shim, Jae Sun, et al.
Publicado: (2015)

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
por: Kaissi, Ali Al, et al.
Publicado: (2015)

Array-CGH and breast cancer
por: van Beers, Erik H, et al.
Publicado: (2006)

The advantages of SNP arrays over CGH arrays
por: Keren, Boris
Publicado: (2014)

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
por: Picker-Minh, Sylvie, et al.
Publicado: (2014)

Spatial normalization of array-CGH data
por: Neuvial, Pierre, et al.
Publicado: (2006)

Evaluation of calling algorithms for array-CGH
por: Roy, Siddharth, et al.
Publicado: (2013)

Human and mouse oligonucleotide-based array CGH
por: van den IJssel, Paul, et al.
Publicado: (2005)

Model-based clustering of array CGH data
por: Shah, Sohrab P., et al.
Publicado: (2009)

A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH
por: Wicker, Nicolas, et al.
Publicado: (2007)

RJaCGH: Bayesian analysis of aCGH arrays for detecting copy number changes and recurrent regions
por: Rueda, Oscar M., et al.
Publicado: (2009)

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
por: Chantot-Bastaraud, Sandra, et al.
Publicado: (2017)

High resolution array-CGH analysis of single cells
por: Fiegler, Heike, et al.
Publicado: (2007)

A stepwise framework for the normalization of array CGH data
por: Khojasteh, Mehrnoush, et al.
Publicado: (2005)

CAPweb: a bioinformatics CGH array Analysis Platform
por: Liva, Stéphane, et al.
Publicado: (2006)

A statistical approach for array CGH data analysis
por: Picard, Franck, et al.
Publicado: (2005)

Estimation of tumor heterogeneity using CGH array data
por: Wang, Kai, et al.
Publicado: (2009)

Classification of arrayCGH data using fused SVM
por: Rapaport, Franck, et al.
Publicado: (2008)

Single-cell chromosomal imbalances detection by array CGH
por: Le Caignec, Cedric, et al.
Publicado: (2006)

MLPA for confirmation of array CGH results and determination of inheritance
por: Hills, Alison, et al.
Publicado: (2010)

Use of array CGH for molecular characterization of genetic disorders
por: Bahal, Ashish, et al.
Publicado: (2014)

Reliable Single Cell Array CGH for Clinical Samples
por: Czyż, Zbigniew T., et al.
Publicado: (2014)

Mapping the location of recurring amplicons in array-CGH data
por: Lingjærde, OC, et al.
Publicado: (2005)

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
por: Dagklis, Themistoklis, et al.
Publicado: (2016)

Whole genome amplification and its impact on CGH array profiles
por: Talseth-Palmer, Bente A, et al.
Publicado: (2008)

Array-CGH and multipoint FISH to decode complex chromosomal rearrangements
por: Darai-Ramqvist, Eva, et al.
Publicado: (2006)

Normalization of array-CGH data: influence of copy number imbalances
por: Staaf, Johan, et al.
Publicado: (2007)

Discovering genetic profiles by array-CGH in familial breast tumors
por: Nederlof, PM, et al.
Publicado: (2005)

The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly
por: Goyal, Manisha, et al.
Publicado: (2022)

Chromosome 15q24 microdeletion syndrome
por: Magoulas, Pilar L, et al.
Publicado: (2012)

The development of a mini-array for estimating the disease state of gastric adenocarcinoma by array CGH
por: Furuya, Tomoko, et al.
Publicado: (2008)

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum
por: Emrick, Lisa T., et al.
Publicado: (2018)

BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH)
por: Ylstra, Bauke, et al.
Publicado: (2006)

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
por: Siggberg, Linda, et al.
Publicado: (2012)

CGHregions: Dimension Reduction for Array CGH Data with Minimal Information Loss
por: van de Wiel, Mark A., et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_pebqcgjn0uosv2uj72vrn5pl63