The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.

The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.

About 2 per cent of specimens from chorionic villus sampling (CVS) analysed either on direct preparation of cytotrophoblast cells or after culture of mesenchymal stroma reveal confined placental mosaicism (CPM), most commonly involving chromosomal trisomy. A significantly higher rate of prenatal loss (22 per cent) as well as the presence of intrauterine growth retardation (IUGR) has been reported among pregnancies with CPM. To evaluate more precisely the effect of these aneuploid cell lines confined to the placenta on intrauterine fetal growth and fetal survival, we have studied 34 term placentae from pregnancies with CPM diagnosed on CVS and confirmed identical mosaicism in 17 of these placentae. There was a direct correlation between a high number of aneuploid cells present at CVS and a high likelihood of their detection in term placenta. Also, the proportion of aneuploid cells in the mosaic term placentae correlated with that observed in CVS specimens. Among 17 gestations with confirmed CPM at delivery, there were six cases of IUGR identified, five in liveborns and one associated with intrauterine death.

Context-Chromosomalabnormalities that involve the proximal region of chromosome 15q occur relatively frequently in the human population. However, interstitial triplications involving one 15 homologue are very rare with three cases reported to date. Objective-To provide a detailed molecular characterisation of four additional patients with interstitial triplications of chromosome 15q11-q14. Design-Molecular analyses were performed using DNA markers and probes specific for the 15q11-q14 region. Setting-Molecular cytogenetics laboratory at the University of Chicago. (15)). In all patients the orientation of the triplicated segments was normalinverted-normal, suggesting that a common mechanism of rearrangement may have been involved. Microsatellite analysis showed the parental origin of the trip(15) to be maternal in three cases and paternal in one case. The paternal triplication patient had features similar to PWS, one maternal triplication patient had features similar to AS, and the other two maternal triplication patients had non-specific findings including hypotonia and mental retardation. Methylation analysis at exon 1 of the SNRPN locus showed increased dosage of either the paternal or maternal bands in the paternal or maternal triplication patients, respectively, suggesting that the methylation pattern shows a dose dependent increase that correlates with the parental origin of the triplication. In addition, the expression of SNRPN was analysed by northern blotting and expression levels were consistent with dosage and parental origin of the triplication. Conclusions-These four additional cases of trip(15) will provide additional information towards understanding the phenotypic eVects of this abnormality and aid in understanding the mechanism of formation of other chromosome 15 rearrangements. (J Med Genet 2001;38:26-34)

The world's first deliveries of normal babies after use of flow cytometric separated human sperm cells (MicroSort) for preconception gender selection are reported. Offspring were of the desired female gender in 92.9% of the pregnancies. Most of these pregnancies and births were achieved after simple intrauterine insemination.

Pain and secondary haemorrhage are the commonest complications of adult tonsillectomy, occurring mostly in the community. This is a randomized, double-blind, placebo-controlled, prospective trial of the effect of perioperative amoxycillin on these complications. The incidence and severity of post-operative haemorrhage was measured. For the first 10 post-operative days patients provided a linear pain score, a record of GP visits, and their use of additional antibiotics and analgesics. Of 95 patients considered: 23 suffered a secondary haemorrhage; 54 consulted their general practitioner (GP) because of pain; additional antibiotics were used by at least 31 and additional analgesics by at least 41. No significant differences were demonstrated between the active and placebo groups for any of these measures. This study demonstrates that secondary haemorrhage is common after adult tonsillectomy. Post-operative pain remains a major problem requiring frequent GP consultations. There appears to be no justification for the routine use of perioperative antibiotics.

Transabdominal and transcervical chorionic-villus sampling appear to be equally safe procedures for first-trimester diagnosis of fetal abnormalities.

No abstract