Isolated gonadal sex chromosome mosaicism in primary amenorrhea

in the right lower quadrant of the abdomen and there Table I. Cytogenetic studies ., was no evidence of malrotation or other congenital anomalies of the gastrointestinal tract. There was no evidence of needle penetration of the abdominal cavity, which might have occurred at the time of amniocen., tesis. This case demonstrates an unusual presentation of presumed cystic fibrosis with meconium ileus and volvulus which led to ischemic infarction and perforation of the small bowel. A more definitive diagnosis of cystic fibrosis would be supported by a positive sweat test or family history, neither of which was present in this patient. The perforation was followed by chemical peritonitis, massive abdominal distention in utero, and obstructed labor. This case likewise emphasizes the need to consider the presence of other fetal anomalies, such as omphalocele or gastroschisis, when the usual maneuvers fail to relieve shoulder dystocia. Chwmosame analyses: Peripheral lymphocytes Repeat lymphocytes Skin fibroblasts Left ovary