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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...

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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:
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
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author Klopocki, Eva
Graul-Neumann, Luitgard M.
Grieben, Ulrike
Tönnies, Holger
Ropers, Hans-Hilger
Horn, Denise
Mundlos, Stefan
Ullmann, Reinhard
author_facet Klopocki, Eva
Graul-Neumann, Luitgard M.
Grieben, Ulrike
Tönnies, Holger
Ropers, Hans-Hilger
Horn, Denise
Mundlos, Stefan
Ullmann, Reinhard
author_sort Klopocki, Eva
collection PubMed
description 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 not be found. Chromosome analysis revealed a normal male karyotype (46,XY). A more detailed investigation of the patient’s genomic DNA by microarray-based comparative genomic hybridization (array CGH) detected an interstitial 3.7 Mb deletion ranging from 15q24.1 to 15q24.3 which was shown to be de novo. Interstitial deletions involving 15q24 are rare. Sharp et al. (Hum Mol Genet 16:567–572, 2007) recently characterized a recurrent 15q24 microdeletion syndrome with breakpoints in regions of segmental duplications. The de novo microdeletion described here colocalizes with the minimal deletion region of the 15q24 microdeletion syndrome. The distinct clinical phenotype associated with this novel microdeletion syndrome is similar to the phenotype of our patient with respect to specific facial features, developmental delay, microcephaly, digital abnormalities, and genital abnormalities in males. We present a genotype–phenotype correlation and comparison with patients from the literature.
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spelling pubmed-27576002009-10-07 A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH Klopocki, Eva Graul-Neumann, Luitgard M. Grieben, Ulrike Tönnies, Holger Ropers, Hans-Hilger Horn, Denise Mundlos, Stefan Ullmann, Reinhard Eur J Pediatr Original Paper 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 not be found. Chromosome analysis revealed a normal male karyotype (46,XY). A more detailed investigation of the patient’s genomic DNA by microarray-based comparative genomic hybridization (array CGH) detected an interstitial 3.7 Mb deletion ranging from 15q24.1 to 15q24.3 which was shown to be de novo. Interstitial deletions involving 15q24 are rare. Sharp et al. (Hum Mol Genet 16:567–572, 2007) recently characterized a recurrent 15q24 microdeletion syndrome with breakpoints in regions of segmental duplications. The de novo microdeletion described here colocalizes with the minimal deletion region of the 15q24 microdeletion syndrome. The distinct clinical phenotype associated with this novel microdeletion syndrome is similar to the phenotype of our patient with respect to specific facial features, developmental delay, microcephaly, digital abnormalities, and genital abnormalities in males. We present a genotype–phenotype correlation and comparison with patients from the literature. Springer-Verlag 2007-10-12 2008-08 /pmc/articles/PMC2757600/ /pubmed/17932688 http://dx.doi.org/10.1007/s00431-007-0616-7 Text en © Springer-Verlag 2007
spellingShingle Original Paper
Klopocki, Eva
Graul-Neumann, Luitgard M.
Grieben, Ulrike
Tönnies, Holger
Ropers, Hans-Hilger
Horn, Denise
Mundlos, Stefan
Ullmann, Reinhard
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title_full A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title_fullStr A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title_full_unstemmed A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title_short A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
title_sort further case of the recurrent 15q24 microdeletion syndrome, detected by array cgh
topic Original Paper
url 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
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