De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.
In: Journal of Genetics, Jg. 91 (2012-08-01), Heft 2, S. 241-244
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Zugriff:
The article focuses on a study which identified the second seemingly de novo inv(17), in an intellectually disabled girl, and compile 21 inv(17) cases: 8 with and 13 without a recombinant chromosome. It mentions that karyotyping was performed on G-banded lymphocyte metaphases from the patient and her parents. The study concludes that G-banded analyses revealed that the patient had a heterozygous inv(17), with both parents having normal chromosomes.
| Titel: |
De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.
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| Autor/in / Beteiligte Person: | PARTIDA-PÉREZ, MIRIAM ; DOMÍNGUEZ, MARÍA ; NEIRA, VIVIAN ; FIGUERA, LUIS ; RIVERA, HORACIO |
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| Zeitschrift: | Journal of Genetics, Jg. 91 (2012-08-01), Heft 2, S. 241-244 |
| Veröffentlichung: | 2012 |
| Medientyp: | academicJournal |
| ISSN: | 0022-1333 (print) |
| DOI: | 10.1007/s12041-012-0172-4 |
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