Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects.
A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic ovaries, and uterine hypoplasia. This case provides additional evidence for an association between trisomy X and genitourinary defects including lower mesodermal defects sequence.
Hoang
M P
MP
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, USA.
Wilson
K S
KS
Schneider
N R
NR
Timmons
C F
CF
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D005313:Fetal Death / Q000235:genetics* / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008648:Mesoderm / Q000473:pathology*; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D014314:Trisomy; D014960:X Chromosome