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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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Statistik und Sichtungsnachweis dieser Seite findet sich am Artikelende
[1.] Mmu/Fragment 035 08 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:40 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 35, Zeilen: 8-11
Quelle: Katzaki 2009
Seite(n): 71, Zeilen: right col. 8-12
Results

[...] The array-CGH analysis also revealed a 50 Kb duplication in Xq28 [arr Xq28(148,690,284-148,728,581)x3 mat] in the proband and her mother, already reported in healthy individuals and thus probably not associated with a phenotype [31] (data not shown).


[31] Sanlaville D, Prieur M, de Blois M C, Genevieve D, Lapierre J M, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, et al. (2005) Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 13:579-85

RESULTS

[...] The array-CGH analysis also revealed a 50 Kb duplication in Xq28 in the proband and her mother, already reported in healthy individuals and thus probably not associated with a phenotype [Sanlaville et al 2005].


• Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005 May 13(5):579-85.

Anmerkungen

Nothing has been marked as a citation. Take-over is continued in Mmu/Fragment_035_16.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 035 16 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:45 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 35, Zeilen: 16-22
Quelle: Katzaki 2009
Seite(n): 71, Zeilen: right col. 12-21
FISH analysis of the parents of both patients, performed using telomeric probes for chromosomes 10 and 17 in family 1 and probes for chromosomes 9 and 17 in family 2, revealed a balanced translocation in Patient 1’s father and Patient 2’s mother (data not shown). Given the presence of microcephaly in the otherwise healthy mother of Patient 2, we also performed array-CGH analysis on the mother’s DNA, to ascertain if the translocation was balanced. The analysis revealed no gains or losses at both breakpoints (data not shown). FISH analysis in parents performed using telomeric probes for chromosomes 9 and 17 revealed a balanced translocation in the mother (data not shown). Given the presence of microcephaly in the otherwise healthy mother, we also performed array-CGH analysis on the mother’s DNA, in order to ascertain if the translocation was balanced. The analysis revealed no gains or losses at both breakpoints. Given the presence of microcephaly in the otherwise healthy mother, we tested her DNA by array-CGH analysis to ascertain if the translocation is indeed balanced.
Anmerkungen

Nothing has been marked as a citation. Take-over is direct continuation from Mmu/Fragment_035_08.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02


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Letzte Bearbeitung dieser Seite: durch Benutzer:Hindemith, Zeitstempel: 20141222161407


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