𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A report of a patient with interstitial deletion of 15q22: Further delineation of a new micro deletion syndrome

✍ Scribed by Shubha R. Phadke; Sheetal Sharda


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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Wisconsin syndrome in a patient with int
✍ Ko, Wai-tai ;Lam, Wai-fan ;Lo, Fai-man ;Chan, Wing-kwong ;Lam, Tak-sum πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 230 KB πŸ‘ 2 views

## 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

Report of a new patient with transpositi
✍ Marble, Michael; Morava, Eva; Lopez, Robert; Pierce, Maria; Pierce, Robert πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 3 views

We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.

De novo deletion 12q: Report of a patien
✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen