Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.

Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.

Use of Medicare claims data to measure county-level variation in breast carcinoma incidence and mammography rates.

BACKGROUND: National-level population-based data about breast carcinoma incidence and its association with screening mammography are currently not available. METHODS: Inpatient, hospital outpatient and physician/supplier Medicare claims were used to identify incident cases of breast carcinoma in women > or = 65 years from 1996 to 1997 and calculate county-level incidence rates. The 1994-1995 claims data were used to determine county-level rates of mammography, and determine the correlation with incidence. RESULTS: The median 2-year incidence rate for women > or = 65 was 979/100,000, and substantial variation in incidence between counties was observed. (i.e. 25th percentile 789/100,000, 75th percentile 1186/100,000). Two-year county-level mammography rates also varied among counties (i.e. 25th percentile 30.5%, 75th percentile 40.9%) and were higher in white women than in black women (median 36.8 and 26.3%, respectively). Counties with higher rates of mammography also had higher age-adjusted incidence rates. CONCLUSIONS: Medicare claims may provide an alternative source of population-based data, particularly for areas in which registry data are not readily available, or are of limited scope. The data highlight the geographic variation in incidence and screening rates that may be useful for targeted interventions, and also suggest that mammography remains in a growth phase.