✦ LIBER ✦

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)

✍ Scribed by Kim, Juwon; Lee, Goeun; Choi, Jong Rak; Kurban, Mazen; Christiano, Angela M.; Levy, Brynn; Kim, Jong Hee; Ma, Sang-Hyuk; Lee, Kyung-A

Book ID: 119293633
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 464 KB
Volume: 59
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2010.07.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rare interstitial deletion (2)(p11.2p13)

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

✍ Lacbawan, Felicitas L.; White, Beverly J.; Anguiano, Arturo; Rigdon, David T.; B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without sig

Complex t(X;18)(p11.2;q11.2) with a peri

Complex t(X;18)(p11.2;q11.2) with a pericentric inversion of the X chromosome in an adolescent boy with synovial sarcoma

✍ Susan Mathew; James Dalton; Shannon Riedley; Sheri L. Spunt; D.Ashley Hill 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 444 KB

West Syndrome in a Patient with Balanced

West Syndrome in a Patient with Balanced Translocation t(X;18)(p22;p11.2)

✍ Shie Akabori; Tomoyuki Takano; Hiroshi Fujito; Yoshihiro Takeuchi 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 595 KB

Dicentric X-isochromosome (Xqi dic) and

Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

✍ Maimon M. Cohen; Ada Rosenmann; Shoshanah Hacham-Zadeh; Sarah Dahan 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 500 KB

Balanced pericentric inversion 8(p23q13)

Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother

✍ Silvia Castillo-Taucher; Juan Pable Beca; Raúl Sáez; Verónica Geldres 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB

Cryptic deletion of EGR1 in association

Cryptic deletion of EGR1 in association with a novel balanced t(5;22)(q31;q11.2) in a patient with myelodysplastic syndrome

✍ Matthew W. Hoffman; Stephen Janney; Jacqueline R. Batanian 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 148 KB