𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel 2.43 Mb deletion of 7q11.22–q11.23

✍ Scribed by Moira Blyth; Sarah Beal; Shuwen Huang; John Crolla; Nicola Foulds

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
193 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion of 7q11.21-q11.23 and infantile
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2
✍ Benno Röthlisberger; Irène Hoigné; Andreas R. Huber; Wolfgang Brunschwiler; Andr 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB

## Abstract We report on the clinical and cytogenetic findings and on the array‐based characterization of an interstitial 7q11.21‐q11.23 deletion initially recognized by standard karyotyping in a 15‐month‐old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infant

What's in a name? The 22q11.2 deletion
What's in a name? The 22q11.2 deletion
✍ McDonald-McGinn, Donna M.; Zackai, Elaine H.; Low, David 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 3 views

Fig. . The 22q.11.2 story can be likened to the old adage of a group of blind men trying to identify an elephant by each examining a separate part. Each man was accurate in describing his own area of interest, but none was able to see the big picture. Several conditions once thought to be separate a

Hemophagocytic lymphohistiocytosis in a
Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2
✍ Aric�, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Gra 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira