| X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation. | |
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MedLine Citation:
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PMID: 8669435 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivation in both the patient and her mother. In the mother, the derivative X (der(X)) was active, whereas the normal X was late replicating. In contrast, in the patient the der(X) was late replicating, and there was no spreading of X-inactivation onto the autosomal segment, thus giving an explanation for the full clinical picture of partial trisomy 16p. |
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Authors:
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W Preis; G Barbi; S Liptay; I Kennerknecht; S Schwemmle; F Pohlandt |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 61 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1996 Jan |
Date Detail:
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Created Date: 1996-08-05 Completed Date: 1996-08-05 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 117-21 Citation Subset: IM |
Affiliation:
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Universitätskinderklinik, Ulm, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosomes, Human, Pair 16* Dosage Compensation, Genetic Female Humans Infant, Newborn Male Metaphase Phenotype Translocation, Genetic* Trisomy* |
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