5.9Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

Puusepp, Helen; Žilina, Olga; Teek, Rita; Männik, Katrin; Parkel, Sven; Kruustük, Katrin; Kuuse, Kati; Kurg, Ants; Õunap, Katrin

doi:10.1016/j.ejmg.2008.09.006

Cited by 29 publications

(40 citation statements)

References 15 publications

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“…Symphalangism, dysmorphic facial features and intellectual disability have previously been reported in four 17q22 microdeletion patients 4,[6][7][8] (Table 2). In addition, eight patients with similar phenotype and cytogenetically visible deletions between 17q22 and 17q24 have been reported.…”

Section: Discussionmentioning

confidence: 80%

“…In addition, eight patients with similar phenotype and cytogenetically visible deletions between 17q22 and 17q24 have been reported. 8 The lack of genomic coordinates for the deletions based on G-band patterning alone makes it difficult to make detailed genotype-phenotype correlations. The 17q22 microdeletions described in this study involve a B8.5-Mb region that is rich in segmental duplications (http://projects.tcag.ca/variation/).…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8] Four of these were identified using array comparative genomic hybridization (array-CGH) or flourescent in situ hybridization (FISH), 4,[6][7][8] and of these, two involved the NOG gene. 4,8 There have been also three reported patients with NOG-like features, where NOG was considered not to be involved; however, these were assessed using standard karyotyping with poor resolution of breakpoints. [9][10][11] To date, all reported patients with deletions of NOG have been associated with symphalangism, proximally placed thumbs and upslanting palpebral fissures.…”

Section: Introductionmentioning

confidence: 99%

“…In four patients hypertelorism and posteriorly rotated low set ears were noted. 1,3,4,8 a clinically recognizable 17q22 microdeletion syndrome and to identify contributing genes.…”

Section: Introductionmentioning

confidence: 99%

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Molecular and clinical delineation of the 17q22 microdeletion phenotype

et al. 2013

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Deletions involving 17q21-q24 have been identified previously to result in two clinically recognizable contiguous gene deletion syndromes: 17q21.31 and 17q23.1-q23.2 microdeletion syndromes. Although deletions involving 17q22 have been reported in the literature, only four of the eight patients reported were identified by array-comparative genomic hybridization (array-CGH) or flourescent in situ hybridization. Here, we describe five new patients with 1.8-2.5-Mb microdeletions involving 17q22 identified by array-CGH. We also present one patient with a large karyotypically visible deletion involving 17q22, fine-mapped to B8.2 Mb using array-CGH. We show that the commonly deleted region in our patients spans 0.24 Mb and two genes; NOG and C17ORF67. The function of C17ORF67 is not known, whereas Noggin, the product of NOG, is essential for correct joint development. In common with the 17q22 patients reported previously, the disease phenotype of our patients includes intellectual disability, attention deficit hyperactivity disorder, conductive hearing loss, visual impairment, low set ears, facial dysmorphology and limb anomalies. All patients displayed NOG-related bone and joint features, including symphalangism and facial dysmorphology. We conclude that these common clinical features indicate a novel clinically recognizable, 17q22 contiguous microdeletion syndrome.

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Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…In four patients hypertelorism and posteriorly rotated low set ears were noted. 1,3,4,8 a clinically recognizable 17q22 microdeletion syndrome and to identify contributing genes.…”

Section: Introductionmentioning

confidence: 99%

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Molecular and clinical delineation of the 17q22 microdeletion phenotype

et al. 2013

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“…Moreover, the snake Z chromosome is known to share homology with human 3p21-p24, 7p14-p15, 10p11-p15 and 17q21-q24 (Matsubara et al, 2006). Monosomy of at least parts of these regions also survive to birth, albeit with phenotypes of varying severity (Wieczorek et al, 1997;Schwarzbraun et al, 2006;Barber, 2008;Puusepp et al, 2009;Lindstrand et al, 2010). This suggests that dosage imbalance from the autosome pair that became the chicken Z, and the autosome pair that became the snake Z, is somewhat tolerable in amniotes.…”

Section: Does Dosage Insensitivity Predispose An Autosome To Evolve Smentioning

confidence: 99%

The origin and evolution of vertebrate sex chromosomes and dosage compensation

2011

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In mammals, birds, snakes and many lizards and fish, sex is determined genetically (either male XY heterogamy or female ZW heterogamy), whereas in alligators, and in many reptiles and turtles, the temperature at which eggs are incubated determines sex. Evidently, different sex-determining systems (and sex chromosome pairs) have evolved independently in different vertebrate lineages. Homology shared by Xs and Ys (and Zs and Ws) within species demonstrates that differentiated sex chromosomes were once homologous, and that the sex-specific non-recombining Y (or W) was progressively degraded. Consequently, genes are left in single copy in the heterogametic sex, which results in an imbalance of the dosage of genes on the sex chromosomes between the sexes, and also relative to the autosomes. Dosage compensation has evolved in diverse species to compensate for these dose differences, with the stringency of compensation apparently differing greatly between lineages, perhaps reflecting the concentration of genes on the original autosome pair that required dosage compensation. We discuss the organization and evolution of amniote sex chromosomes, and hypothesize that dosage insensitivity might predispose an autosome to evolving function as a sex chromosome.

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Genomic and clinical characteristics of microduplications in chromosome 17

Shchelochkov

Cheung

Lupski

2010

American J of Med Genetics Pt A

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Genomic disorders have been increasingly recognized as a significant source of clinically relevant phenotypes largely fostered by advances in technologies for genome-wide analyses. Molecular and clinical studies of copy number variants involving chromosome 17 began with locus-specific studies of Charcot-Marie-Tooth disease type 1A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP, OMIM #162500), which laid the foundation for the paradigm of duplication/deletion and gene-dosage for our understanding of genomic disorders. With the clinical introduction of high-resolution array comparative genomic hybridization (aCGH) the number of recognized genomic disorders including microduplications has been increasing rapidly. A relatively high proportion of disease-associated copy number variants map to chromosome 17. This may result from its unique structural features, such as relative abundance of segmental duplications and interspersed repetitive elements, high gene content, and the presence of dosage-sensitive genes. These genomic rearrangements are mediated by diverse mechanisms including Non-Allelic Homologous Recombination (NAHR), Non-Homologous End-Joining (NHEJ), and Fork Stalling and Template Switching (FoSTeS). We provide specific examples of chromosome 17 microduplications with the emphasis on their phenotype, specific clinical features aiding in their diagnosis, and counseling.

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5.9Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

Cited by 29 publications

References 15 publications

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Molecular and clinical delineation of the 17q22 microdeletion phenotype

The origin and evolution of vertebrate sex chromosomes and dosage compensation

Genomic and clinical characteristics of microduplications in chromosome 17

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