✦ LIBER ✦

Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome

✍ Scribed by Mitsuo Toyoshima; Chihiro Yonee; Yoshihiro Maegaki; Toshiyuki Yamamoto; Keiko Shimojima; Shinsuke Maruyama; Yoshifumi Kawano

Book ID: 101451113
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 202 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32762

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three‐dimensional computed tomographic reconstruction revealed a T1‐T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary‐der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

✍ CHIH-PING CHEN; FEN-FEN LIU; SHEAU-WEN JAN; YUH-CHENG YANG; CHUNG-CHI LAN 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 634 KB

We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(l1;22)(q23;qll) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation

Hyperprolinaemia in patients with deleti

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

✍ B. K. Goodman; J. Rutberg; W. W. Lin; A. E. Pulver; G. H. Thomas; M. T. Geraghty 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 36 KB

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Obsessive-compulsive disorder in patient

Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome

✍ Gothelf, Doron ;Presburger, Gadi ;Zohar, Ada H. ;Burg, Merav ;Nahmani, Ariela ;F 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 3 views

Aortic root dilation in patients with 22

Aortic root dilation in patients with 22q11.2 deletion syndrome

✍ Anitha S. John; Donna M. McDonald-McGinn; Elaine H. Zackai; Elizabeth Goldmuntz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 3 views

Type I diabetes mellitus in a patient wi

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

✍ Elder, Deborah A. ;Kaiser-Rogers, Kathleen ;Aylsworth, Arthur S. ;Calikoglu, Ali 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 2 views

We describe a patient with type I diabetes, clinical ®ndings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. H