Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)
β¦ LIBER β¦
46, X,X-X terminal rearrangement /45, X mosaicism in a child with short stature
β Scribed by D. M. O. Becroft; J. M. Costello; R. L. Shaw
- Book ID
- 119838560
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 466 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Multiple congenital anomalies in a fetus
β
Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel
π
Article
π
1998
π
John Wiley and Sons
π
English
β 15 KB
π 1 views
A complex mosaicism 45,X/46,X,del(Xq)/46
β
S. Calvano; G.P. de Cillis; A.I. Croce; G. Perla; A. Notarangelo; L. Zelante
π
Article
π
2002
π
Elsevier Science
π
English
β 149 KB
46, X, i(Xq)/45, X mosaicism with gonada
β
Magdolna GaΓ‘l; A. TΓ³th; P. BΓΆsze; J. LΓ‘szlΓ³
π
Article
π
2008
π
John Wiley and Sons
π
English
β 412 KB
A girl with mosaicism for a dicentric X
β
J. F. Mattei; H. Taramasco; M. G. Mattei; C. Lucas; L. Aubert; F. Giraud
π
Article
π
1977
π
Springer
π
English
β 516 KB
A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes
Case of 45,X/46,XY mosaicism with non-mo
β
van den Berg, Cardi ;Van Opstal, Diane ;Brandenburg, Helen ;Los, Frans J.
π
Article
π
2000
π
John Wiley and Sons
π
English
β 98 KB
π 1 views
A woman with an apparent non-mosaic 45,X
β
G. Palka; G. Calabrese; L. Stuppia; P. Guanciali Franchi; E. Morizio; R. Peila;
π
Article
π
2008
π
John Wiley and Sons
π
English
β 392 KB