genetyka diagnostyczna i laboratoryjna
Produkty / 1p36 Microdeletion Syndrome Probe Set [LSI p58(1p36) SO

1p36 Microdeletion Syndrome Probe Set [LSI p58(1p36) SO

Nr kat. 32-231011

Producent: ABBOTT / VYSIS

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1p36 Microdeletion Syndrome Probe Set [LSI p58(1p36) SO/TelVysion 1p SG/LSI 1q25 SA ]
Terminal deletions involving the 1p subtelomere region and interstitial deletions of 1p36, as well as derivative chromosomes and complex rearrangements resulting in monosomy 1p36, are observed in individuals with a recognizable syndrome. Characteristics of this syndrome include distinct facial features, developmental delay, heart malformations, seizures and hearing impairment. Features and severity of the syndrome, which affects 1 in 5,000 births, vary among individuals, and may reflect haploinsufficiency of select genes mapped to 1p36.
When this probe set is hybridized to normal metaphase chromosomes, both chromosome one homologs are expected to have an aqua signal on 1q25, and single orange (p58, 1p36) and green (1p subtelomere) signals that may appear as two distinct signals or frequently asone fused yellow signal.
When the probe set is hybridized to a metaphase chromosome set having monosomy 1p36, one chromosome one homolog is expected to have a normal hybridization pattern, the other homolog would be marked with an aqua signal, and the second orange and/or green signals would be absent.
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