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Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

BACKGROUND: Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relat...

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Autores principales: Al-Zahrani, Jawaher, Al-Dosari, Naji, AbuDheim, Nada, Alshidi, Tarfa A, Colak, Dilek, Al-Habit, Ola, Al-Odaib, Ali, Sakati, Nadia, Meyer, Brian, Ozand, Pinar T, Kaya, Namik
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083380/
https://www.ncbi.nlm.nih.gov/pubmed/21457577
http://dx.doi.org/10.1186/1755-8166-4-9
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author Al-Zahrani, Jawaher
Al-Dosari, Naji
AbuDheim, Nada
Alshidi, Tarfa A
Colak, Dilek
Al-Habit, Ola
Al-Odaib, Ali
Sakati, Nadia
Meyer, Brian
Ozand, Pinar T
Kaya, Namik
author_facet Al-Zahrani, Jawaher
Al-Dosari, Naji
AbuDheim, Nada
Alshidi, Tarfa A
Colak, Dilek
Al-Habit, Ola
Al-Odaib, Ali
Sakati, Nadia
Meyer, Brian
Ozand, Pinar T
Kaya, Namik
author_sort Al-Zahrani, Jawaher
collection PubMed
description BACKGROUND: Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. RESULTS: We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH) and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12)(q24.31q24.33) in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. CONCLUSIONS: Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.
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spelling pubmed-30833802011-04-28 Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects Al-Zahrani, Jawaher Al-Dosari, Naji AbuDheim, Nada Alshidi, Tarfa A Colak, Dilek Al-Habit, Ola Al-Odaib, Ali Sakati, Nadia Meyer, Brian Ozand, Pinar T Kaya, Namik Mol Cytogenet Case Report BACKGROUND: Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. RESULTS: We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH) and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12)(q24.31q24.33) in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. CONCLUSIONS: Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype. BioMed Central 2011-04-02 /pmc/articles/PMC3083380/ /pubmed/21457577 http://dx.doi.org/10.1186/1755-8166-4-9 Text en Copyright ©2011 Al-Zahrani et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Al-Zahrani, Jawaher
Al-Dosari, Naji
AbuDheim, Nada
Alshidi, Tarfa A
Colak, Dilek
Al-Habit, Ola
Al-Odaib, Ali
Sakati, Nadia
Meyer, Brian
Ozand, Pinar T
Kaya, Namik
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title_full Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title_fullStr Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title_full_unstemmed Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title_short Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
title_sort chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: first mosaic patient and overview of the phenotype related to 12q24qter defects
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083380/
https://www.ncbi.nlm.nih.gov/pubmed/21457577
http://dx.doi.org/10.1186/1755-8166-4-9
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