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Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure

✍ Scribed by Kim, Mi Kyoung (author);Seok, Hyun Ha (author);Kim, You Shin (author);Chin, Mi Uk (author);Sung, Se Ra (author);Lee, Woo Sik (author);Shim, Sung Han (author);Yoon, Tae Ki (author)

Book ID: 121376005
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 995 KB
Volume: 534
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.10.026

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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

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## Abstract Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consi