Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Kucharczyk, Marzena; Jezela‐Stanek, Aleksandra; Gieruszczak‐Białek, Dorota; Kugaudo, Monika; Cieślikowska, Agata; Pelc, Magdalena; Krajewska‐Walasek, M

doi:10.5507/bp.2015.003

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…FISH was first performed on the sister (II-7) using subtelomeric probes (Vysis) of chromosome 17p and showed the absence of a subtelomeric signal on one of the chromosomes 17p (FIG. 3 Curiously, patients having the smallest and the largest duplications of the MDS region reported so far have presented normal Magnetic Resonance Imaging (MRI) (P1/ [10]; P1/ [15]). This suggests that this heterogeneity depends on the size of the duplication and the involved genes as well as on the involvement of other gene interactions and modifier genes.…”

Section: Resultsmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

AMOR

Dimassi

Hannachi

et al. 2019

Preprint

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Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3;17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

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Section: Resultsmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

AMOR

Dimassi

Hannachi

et al. 2019

Preprint

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“…Likewise, our patient presented corpus callosum hypoplasia. Curiously, patients having the smallest and the largest duplications of the entire MDS region reported so far have presented normal Magnetic Resonance Imaging (MRI) (P1/ [11]; P1/ [16]). This suggests that this heterogeneity depends on the size of the duplication and the involved genes as well as on the involvement of other gene interactions and modifier genes.…”

Section: Resultsmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t(3;17): which genes are implicated in the phenotype?

AMOR

Dimassi

Hannachi

et al. 2019

Preprint

View full text Add to dashboard Cite

Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, duplication 17p13.3 and deletion 3p were seen in the second case. This double chromosome aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3;17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

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“…So far, to the best of our knowledge, only 13 patients having large 17p13.3 duplications, including the entire MDS comprising both PAFAH1B1 and YWHAE genes have been reported [2,[9][10][11][12][13][14][15] (Fig. 6) with varying sizes and different breakpoints.…”

Section: Discussionmentioning

confidence: 99%

“…Likewise, our patient presented corpus callosum hypoplasia. Curiously, patients reported so far as having the smallest and the largest duplications of the MDS region present normal Magnetic Resonance Imaging (MRI) (P1/ [10]; P1/ [15]). This suggests that this heterogeneity depends on the size of the duplication and the involved genes as well as on the involvement of other gene interactions and modifier genes.…”

Section: Discussionmentioning

confidence: 99%

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype

et al. 2020

View full text Add to dashboard Cite

Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion, were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3,17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

show abstract

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Cited by 5 publications

References 18 publications

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotype

Neuronal migration genes and a familial translocation t(3;17): which genes are implicated in the phenotype?

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype

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