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Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 37, Zeilen: 20-27
Quelle: Katzaki 2009
Seite(n): 71-72, Zeilen: 71:right col. 75-76 - 72:left col. 1-6, 8-11
The presence of microcephaly in both Patient 2 and her mother led us to consider disrupted genes at the breakpoints as possible candidate causes of microcephaly. The breakpoint at chromosome 17 did not disrupt genes, while the breakpoint at chromosome 9 interrupted the C9orf68 gene, which has a sequence homology to SPATA6, encoding for a spermatogenesis-associated protein 6 precursor. A dosage alteration of genes located near the breakpoints due to a positional effect cannot be excluded as a possible cause for the microcephaly present both in the patient and her mother. [Page 71]

The presence of microcephaly in both the patient and the mother induced us to

[Page 72]

consider disrupted genes at the breakpoints as possible candidates for microcephaly. The breakpoint on chromosome 17 seems not to disrupt genes, while the breakpoint on chromosome 9 seems to interrupt the gene C9orf68, which has a sequence homologous to SPATA6, encoding for a spermatogenesis-associated protein 6 precursor. Given the associated function, this gene doesn’t seem to contribute to the phenotype of our patient. A dosage alteration of genes located near the breakpoints due to a positional effect cannot be excluded as a possible cause for the microcephaly present both in the patient and her mother.

Anmerkungen

Nothing has been marked as a citation.

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.

The take-over from the original text is continued from Mmu/Fragment_037_01.

Sichter
(Graf Isolan), SleepyHollow02

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