✦ LIBER ✦

Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype

✍ Scribed by Ko, Wai-tai ;Lam, Wai-fan ;Lo, Fai-man ;Chan, Wing-kwong ;Lam, Tak-sum

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 230 KB
Volume: 120A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20149

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on the reported cases of 3q deletion and find that the condition of our patient is not typical of the BPES. Rather, she shares similarity to a patient with Wisconsin syndrome, first discovered in 1976. © 2003 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Further molecular and clinical delineati

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

✍ Marjolein H. Willemsen; Nicole de Leeuw; Catherine Mercer; Helen Eisenhauer; Joa 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

Gardner syndrome in a boy with interstit

Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5

✍ Kobayashi, Tatsunori ;Narahara, Kouji ;Yokoyama, Yuji ;Ueyama, Satoshi ;Mohri, O 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 410 KB 👁 2 views

A patient with an interstitial deletion

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4

✍ Beall, Marie H. ;Falk, Rena E. ;Ying, Kuang-Lin ;Opitz, John M. ;Reynolds, James 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB 👁 1 views

A review of phenotype-karyotype correlat

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2

✍ Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl A. ;Beckford, Avril 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 366 KB 👁 2 views

A patient with interstitial deletion of

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

✍ Wieczorek, Dagmar; Bolt, Jan; Schwechheimer, Karl; Gillessen-Kaesbach, Gabriele 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 3 views

We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplas

Loss of the N-myc oncogene in a patient

Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2

✍ Saal, Howard M.; King, Lora J.; Zimmerman, Donna; Johnson, Robert C.; Carr, Ann 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 439 KB 👁 3 views