We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectod
β¦ LIBER β¦
Two unique patients with trisomy 18 mosaicism and molecular marker studies
β Scribed by Slavotinek, A. ;Poyser, L. ;Wallace, A. ;Martin, F. ;Gaunt, L. ;Kingston, H.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 177 KB
- Volume
- 117A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Hypomelanosis of Itoβa nonspecific marke
β
Chitayat, David ;Friedman, J. M. ;Johnston, Margaret M.
π
Article
π
1990
π
John Wiley and Sons
π
English
β 333 KB
π 2 views
Phenotypic spectrum of mosaic trisomy 18
β
Megan E. Tucker; Holly J. Garringer; David D. Weaver
π
Article
π
2007
π
John Wiley and Sons
π
English
β 486 KB
π 1 views
Unique case of mosaicism involving two m
β
Levy, Brynn ;Jalal, Syed M. ;Dunn, Teresa M. ;Warburton, Peter E. ;Tonk, Vijay S
π
Article
π
2002
π
John Wiley and Sons
π
English
β 323 KB
π 2 views
Clinical and molecular-cytogenetic studi
β
Stankiewicz, Pawe? ;Brozek, Izabela ;HοΏ½lias-Rodzewicz, Zofia ;Wierzba, Jolanta ;
π
Article
π
2001
π
John Wiley and Sons
π
English
β 435 KB
π 1 views
Clinical and molecular cytogenetic chara
β
Emberger, Werner ;Petek, E. ;Kroisel, P. M. ;Zierler, H. ;Wagner, K.
π
Article
π
2001
π
John Wiley and Sons
π
English
β 470 KB
π 2 views
Molecular cytogenetic studies in three p
β
Aviram-Goldring, Ayala; Fritz, Barbara; Bartsch, Christine; Steuber, Elke; Danie
π
Article
π
2000
π
John Wiley and Sons
π
English
β 41 KB
π 1 views
We report on three cases of partial trisomy 2p in which the identification and exact localization of the duplicated chromosome segment was possible only by application of molecular cytogenetic techniques. These included fluorescence in situ hybridization by use of wcp2, N-myc, and subtelomeric 2p pr