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Phenotype of a patient with pure partial trisomy 2p(p23?pter)

✍ Scribed by Al-Saffar, Muna ;Lemyre, Emmanuelle ;Koenekoop, Robert ;Duncan, Alessandra M. V. ;Der Kaloustian, Vazken M.

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
272 KB
Volume
94
Category
Article
ISSN
0148-7299

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πŸ“œ SIMILAR VOLUMES

?Essentially pure? partial trisomy (6)(p
?Essentially pure? partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)
✍ RοΏ½thlisberger, Benno; Kotzot, Dieter; Gnehm, Hanspeter E.; Schinzel, Albert πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 1 views

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23β†’pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and

Cytogenetic and molecular characterizati
Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter
✍ Carlos A. Tirado πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 1 views

Please note that Figure 2A needed correction. [A] FISH using subtelomere probes [TelVysion 2p Spectrum green (VIJyRM2052) and TelVysion 2q Spectrum orange (VIJyRM2123)] from Abbott Molecular. The legend is correct; however, the chromosome on the left should have a red signal designated with q and n