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We began analyzing https://link.springer.com/article/10.1007/s004390050938, but it redirected us to https://link.springer.com/article/10.1007/s004390050938. The analysis below is for the second page.

Title[redir]:
Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level | Human Genetics
Description:
Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosomes 8, 9, 15 and 16, which have each been reported in multiple unrelated families. In this paper, we present a new family and an unrelated individual who have euchromatic variants of 16p. Enhanced hybridisation to the extra material was found by using fluorescence in situ hybridisation with cosmids for both the 16p11.2-specific non-functional immunoglobin heavy chain segments and the pseudogenetic 16p11.2 creatine transporter region. Computerised measurement of the fluorescent signals was consistent with amplification of a pseudogene cassette comprising both these paralogous domains, which were originally transposed from 14q32.3 and Xq28, respectively. Amplification of pseudogenetic sequences is consistent with the normal phenotype in 36/46 carriers from the 18 families reported to date. Inconsistent phenotypic anomalies in the remaining 10 carriers probably reflect bias of ascertainment. These results are analogous to the amplification of the 15q11.2-specific pseudogene cassette in euchromatic variants of chromosome 15. They also suggest that the majority of established euchromatic variants are associated with variation in the copy number of sequences that have been dispersed between pericentromeric and telomeric loci over recent evolutionary time. We propose that constitutional cytogenetic amplification of this kind is part of a more widespread continuum of genomic flux affecting regions in which heterochromatin and euchromatin interpose. Euchromatic sequences that vary in a heterochromatic manner might usefully be termed “hemichromatic”.

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Keywords {🔍}

article, amplification, euchromatic, access, privacy, cookies, content, dahoun, information, publish, search, genetics, pseudogene, cassette, cytogenetic, variants, data, log, journal, research, human, variation, level, barber, reed, csophie, phenotypic, sequences, open, discover, springer, optional, personal, parties, policy, find, track, underlies, cite, caroline, christine, joyce, explore, chromosomes, reported, unrelated, families, hybridisation, heavy, chain,

Topics {✒️}

recent evolutionary time month download article/chapter inconsistent phenotypic anomalies privacy choices/manage cookies pseudogene cassette comprising full article pdf 2-specific pseudogene cassette constitutional cytogenetic amplification european economic area scope submit manuscript fluorescent signals uk e-mail geneva university hospital conditions privacy policy check access instant access established euchromatic variants accepting optional cookies multiple unrelated families salisbury district hospital phenotypic consequences main content log journal finder publish medical genetics pgs article 29 article log cytogenetic level related subjects privacy policy article cite personal data books a article barber euchromatic variants optional cookies manage preferences euchromatic sequences data protection essential cookies cookies skip subscription content similar content unrelated individual institution subscribe journal publish usage analysis social media varying standards april 1999 volume 104 chromosomes 8

Schema {🗺️}

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         headline:Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
         description: Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosomes 8, 9, 15 and 16, which have each been reported in multiple unrelated families. In this paper, we present a new family and an unrelated individual who have euchromatic variants of 16p. Enhanced hybridisation to the extra material was found by using fluorescence in situ hybridisation with cosmids for both the 16p11.2-specific non-functional immunoglobin heavy chain segments and the pseudogenetic 16p11.2 creatine transporter region. Computerised measurement of the fluorescent signals was consistent with amplification of a pseudogene cassette comprising both these paralogous domains, which were originally transposed from 14q32.3 and Xq28, respectively. Amplification of pseudogenetic sequences is consistent with the normal phenotype in 36/46 carriers from the 18 families reported to date. Inconsistent phenotypic anomalies in the remaining 10 carriers probably reflect bias of ascertainment. These results are analogous to the amplification of the 15q11.2-specific pseudogene cassette in euchromatic variants of chromosome 15. They also suggest that the majority of established euchromatic variants are associated with variation in the copy number of sequences that have been dispersed between pericentromeric and telomeric loci over recent evolutionary time. We propose that constitutional cytogenetic amplification of this kind is part of a more widespread continuum of genomic flux affecting regions in which heterochromatin and euchromatin interpose. Euchromatic sequences that vary in a heterochromatic manner might usefully be termed “hemichromatic”.
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            Creatine
            Heavy Chain
            Fluorescent Signal
            Phenotypic Consequence
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
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      headline:Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
      description: Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosomes 8, 9, 15 and 16, which have each been reported in multiple unrelated families. In this paper, we present a new family and an unrelated individual who have euchromatic variants of 16p. Enhanced hybridisation to the extra material was found by using fluorescence in situ hybridisation with cosmids for both the 16p11.2-specific non-functional immunoglobin heavy chain segments and the pseudogenetic 16p11.2 creatine transporter region. Computerised measurement of the fluorescent signals was consistent with amplification of a pseudogene cassette comprising both these paralogous domains, which were originally transposed from 14q32.3 and Xq28, respectively. Amplification of pseudogenetic sequences is consistent with the normal phenotype in 36/46 carriers from the 18 families reported to date. Inconsistent phenotypic anomalies in the remaining 10 carriers probably reflect bias of ascertainment. These results are analogous to the amplification of the 15q11.2-specific pseudogene cassette in euchromatic variants of chromosome 15. They also suggest that the majority of established euchromatic variants are associated with variation in the copy number of sequences that have been dispersed between pericentromeric and telomeric loci over recent evolutionary time. We propose that constitutional cytogenetic amplification of this kind is part of a more widespread continuum of genomic flux affecting regions in which heterochromatin and euchromatin interpose. Euchromatic sequences that vary in a heterochromatic manner might usefully be termed “hemichromatic”.
      datePublished:
      dateModified:
      pageStart:211
      pageEnd:218
      sameAs:https://doi.org/10.1007/s004390050938
      keywords:
         Evolutionary Time
         Creatine
         Heavy Chain
         Fluorescent Signal
         Phenotypic Consequence
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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                  address:
                     name:Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK e-mail: [email protected], Tel.: +44 1722 336262 ext 4080; Fax: +44 1722 338095 or 331531, , GB
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                     name:Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK e-mail: [email protected], Tel.: +44 1722 336262 ext 4080; Fax: +44 1722 338095 or 331531, , GB
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                     name:Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK e-mail: [email protected], Tel.: +44 1722 336262 ext 4080; Fax: +44 1722 338095 or 331531, , GB
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