✦ LIBER ✦

Phenocopy of Wolf–Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

✍ Scribed by Bruno Dallapiccola; Laura Bernardini; Antonio Novelli; Rita Mingarelli

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 138 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32695

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Late-onset Lennox–Gastaut syndrome in a

Late-onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

✍ Alfredo Orrico; Marcella Zollino; Lucia Galli; Sabrina Buoni; Giuseppe Marangi; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 1 views

A 781-kb deletion of 13q12.3 in a patien

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

✍ Chad R. Haldeman-Englert; Taiyabah Naeem; Elizabeth A. Geiger; Ashley Warnock; H 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

An 11q11–q13.3 duplication, including FG

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

✍ Fernanda S. Jehee; Débora R. Bertola; Krishna K. Yelavarthi; Ana C.V. Krepischi- 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 1 views

## Abstract Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of

Multiple hemangiomas in a patient with a

Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndrome

✍ Sherly Pardo; Netta Blitman; Bokyung Han; Ninette Cohen; Lisa Edelmann; Kurt Hir 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB 👁 1 views

Opitz trigonocephaly C syndrome in a boy

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)

✍ Yasutsugu Chinen; Tadashi Kaname; Kumiko Yanagi; Nakamichi Saito; Kenji Naritomi 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB 👁 2 views

Trisomy 5q12→q13.3 in a patient with add

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

✍ Nordgren, Ann; Arver, Stefan; Kvist, Ulrik; Carter, Nigel; Blennow, Elisabeth 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We report on a patient with azoospermia, mild mental retardation, and minor physical anomalies. Chromosome analysis demonstrated the presence of additional material on the long arm of one chromosome 13. Forward chromosome painting using chromosome-specific libraries showed an insertion of material f