The Experts below are selected from a list of 84 Experts worldwide ranked by ideXlab platform

Sau Wai Cheung - One of the best experts on this subject based on the ideXlab platform.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of six1 six6 and otx2 resulting from a complex chromosomal rearrangement
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Lance M Cooper, Craig A Chinault, Pawel Stankiewicz, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an � 11.79 Mb duplication of chromosome 14q22.3–q23.3 and a loss of an � 4.38 Mb sequence in 13q21.31–q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3–q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3–q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6 ,o rOTX2 may be responsible for the BOR and OAVS-like features in this family. 2008 Wiley-Liss, Inc.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Pawel Stankiewicz, M Lance Cooper, A Craig Chinault, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an approximately 11.79 Mb duplication of chromosome 14q22.3-q23.3 and a loss of an approximately 4.38 Mb sequence in 13q21.31-q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3-q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3-q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family.

Donna M Martin - One of the best experts on this subject based on the ideXlab platform.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of six1 six6 and otx2 resulting from a complex chromosomal rearrangement
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Lance M Cooper, Craig A Chinault, Pawel Stankiewicz, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an � 11.79 Mb duplication of chromosome 14q22.3–q23.3 and a loss of an � 4.38 Mb sequence in 13q21.31–q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3–q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3–q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6 ,o rOTX2 may be responsible for the BOR and OAVS-like features in this family. 2008 Wiley-Liss, Inc.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Pawel Stankiewicz, M Lance Cooper, A Craig Chinault, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an approximately 11.79 Mb duplication of chromosome 14q22.3-q23.3 and a loss of an approximately 4.38 Mb sequence in 13q21.31-q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3-q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3-q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family.

Veronica Bertini - One of the best experts on this subject based on the ideXlab platform.

  • Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.
    Frontiers in genetics, 2019
    Co-Authors: Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini
    Abstract:

    We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical Syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features with Branchiootorenal spectrum disorders, including Branchiootorenal Syndrome and branchiootic Syndrome. These disorders have been described as clinically distinct entities, but molecular studies have shown that all the causative genes belong to the Pax-Six-Eya-Dach network (PSEDN). So far, the genetic diagnosis of OTFCS has been performed only in very few cases and involves two genes, EYA1 and PAX1; thus, it is likely that other genes have still to be identified. In the present patient, array CGH analysis showed a 3.7-Mb deletion in 6q23; a smaller 1.9-Mb deletion in the same region was detected in her mother. The minimal overlapping region harbors the EYA4 gene. The cases here described are interesting, since they all showed the typical clinical features of OTFCS, associated with a deletion in 6q23.2. Even if we cannot exclude the contribution of other genes to the phenotype, EYA4 is a good candidate for OTFCS according to its pattern of expression, its sequence similarity to EYA1, and its involvement in PSEDN.

Jirair K Bedoyan - One of the best experts on this subject based on the ideXlab platform.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of six1 six6 and otx2 resulting from a complex chromosomal rearrangement
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Lance M Cooper, Craig A Chinault, Pawel Stankiewicz, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an � 11.79 Mb duplication of chromosome 14q22.3–q23.3 and a loss of an � 4.38 Mb sequence in 13q21.31–q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3–q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3–q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6 ,o rOTX2 may be responsible for the BOR and OAVS-like features in this family. 2008 Wiley-Liss, Inc.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Pawel Stankiewicz, M Lance Cooper, A Craig Chinault, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an approximately 11.79 Mb duplication of chromosome 14q22.3-q23.3 and a loss of an approximately 4.38 Mb sequence in 13q21.31-q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3-q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3-q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family.

Pawel Stankiewicz - One of the best experts on this subject based on the ideXlab platform.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of six1 six6 and otx2 resulting from a complex chromosomal rearrangement
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Lance M Cooper, Craig A Chinault, Pawel Stankiewicz, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an � 11.79 Mb duplication of chromosome 14q22.3–q23.3 and a loss of an � 4.38 Mb sequence in 13q21.31–q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3–q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3–q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6 ,o rOTX2 may be responsible for the BOR and OAVS-like features in this family. 2008 Wiley-Liss, Inc.

  • Branchiootorenal Syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Donna M Martin, Jirair K Bedoyan, Pawel Stankiewicz, M Lance Cooper, A Craig Chinault, Sau Wai Cheung
    Abstract:

    We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either Branchiootorenal Syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was inserted into the long arm of one chromosome 13. The same pattern was also seen in the chromosomes of the father, who has mental retardation, short stature, hypernasal speech, and minor craniofacial anomalies, including tall forehead, and crowded dentition. Subsequent whole genome oligonucleotide microarray analysis revealed an approximately 11.79 Mb duplication of chromosome 14q22.3-q23.3 and a loss of an approximately 4.38 Mb sequence in 13q21.31-q21.32 in both the propositus and his father and FISH supported the apparent association of the two events. Chromosome 14q22.3-q23.3 contains 51 genes, including SIX1, SIX6, and OTX2. A locus for branchiootic Syndrome (BOS) has been mapped to 14q21.3-q24.3, and designated as branchiootic Syndrome 3 (BOS3). Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family.