✦ LIBER ✦

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

✍ Scribed by Rocca, Maria Santa; Faletra, Flavio; Devescovi, Raffaella; Gasparini, Paolo; Pecile, Vanna

Book ID: 123478215
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 381 KB
Volume: 56
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.10.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular cytogenetic characterization a

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

✍ Lucia Margari; Maria Luisa Di Cosola; Maura Buttiglione; Angela Pansini; Antonia 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

✍ Cargile, Colyn B. ;Goh, Denise L.-M. ;Goodman, Barbara K. ;Chen, Xiao-Ning ;Kore 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

## 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

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of a metastatic lung sarcomatoid carcinoma: 9p23 neocentromere and 9p23∼p24 amplification including JAK2 and JMJD2C

✍ Antoine Italiano; Rita Attias; Alain Aurias; Gaëlle Pérot; Fanny Burel-Vandenbos 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 525 KB

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of an 8p22–8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities

✍ Audrey Basinko; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Philippe Parent; H 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

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 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 3 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

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; Samuel Henderson; Naseem Uddin; Ewa Stewart; Santha Iyer; Ian 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 3 views