Trisomy 22 in a 20-year-old female

Summary Trisomy 22 was confirmed in a 20-year-old ambulatory female. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with a previous survey. Several interesting unreported findings such as sexual immaturity and gait are discussed in regard to the 22 trisomy syndrome.Gracewood State School and Hospital     

Radiation treatment for refractory endometriosis: a 38-year-old female presenting with vaginal bleeding

BackgroundEndometriosis is typically managed with a medical or surgical approach, though some patients have medically refractory disease and are poor surgical candidates.Case presentationA 39-year-old woman presented to our facility with uncontrolled bleeding and pain from an endometriotic mass at the vaginal cuff. She had a history of abdominal hysterectomy with bilateral salpingo-oophorectomy, now with medically refractive and inoperable disease due to prior history of vesicovaginal fistula. We prescribed 30 Gy in 10 fractions with 10 MV and 18 MV photons to the target. At follow-up our patient reported a complete resolution of bleeding and pelvic pain.ConclusionRadiation treatment can be an effective treatment for refractory endometriosis.     

69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy

A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).     

Five month extrauterine survival in a female triploid (69,XXX) child.

The case of a (69,XXX) triploid infant who survived 160 days is reported. Previously, the longest survival of a non-mosaic triploid had been 9 days. Possible reasons for this extensive survival are discussed.