1.
Clin Dermatol
; 19(3): 262-8, 2001.
Article
in English
| MEDLINE
| ID: mdl-11479038
2.
Adv Dermatol
; 17: 339-84, 2001.
Article
in English
| MEDLINE
| ID: mdl-11758123
3.
Arch Dermatol
; 136(4): 535-7, 2000 Apr.
Article
in English
| MEDLINE
| ID: mdl-10768653
4.
Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.
Am J Med Genet
; 70(1): 32-6, 1997 May 02.
Article
in English
| MEDLINE
| ID: mdl-9129738
ABSTRACT
Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.