The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in
β¦ LIBER β¦
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome
β Scribed by Stathopulu, E. ;Ogilvie, C. Mackie ;Flinter, F.A.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 76 KB
- Volume
- 119A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Submicroscopic deletion of chromosome 16
β
Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H.
π
Article
π
1998
π
John Wiley and Sons
π
English
β 20 KB
π 1 views
Recurrent inverted duplication of 2p wit
β
Nicolas Gruchy; Marie-Line Jacquemont; Stanislas Lyonnet; Philippe Labrune; Imen
π
Article
π
2007
π
John Wiley and Sons
π
English
β 248 KB
π 2 views
Wisconsin syndrome in a patient with int
β
Ko, Wai-tai ;Lam, Wai-fan ;Lo, Fai-man ;Chan, Wing-kwong ;Lam, Tak-sum
π
Article
π
2003
π
John Wiley and Sons
π
English
β 230 KB
π 1 views
## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosisβptosisβepicanthus 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
Submicroscopic deletion of chromosome re
β
Masuno, Mitsuo ;Imaizumi, Kiyoshi ;Kurosawa, Kenji ;Makita, Yoshio ;Petrij, Fred
π
Article
π
1994
π
John Wiley and Sons
π
English
β 314 KB
π 2 views
Gardner syndrome in a boy with interstit
β
Kobayashi, Tatsunori ;Narahara, Kouji ;Yokoyama, Yuji ;Ueyama, Satoshi ;Mohri, O
π
Article
π
1991
π
John Wiley and Sons
π
English
β 410 KB
π 1 views
Opitz βCβ trigonocephaly-like syndrome i
β
MΓ‘rta CzakΓ³; Mariluce Riegel; Γva Morava; Katalin BajnΓ³czky; GyΓΆrgy KosztolΓ‘nyi
π
Article
π
2004
π
John Wiley and Sons
π
English
β 115 KB
π 1 views