Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.

Microduplications of 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/Velocardiofacial syndrome (DGS/VCFS). We report on the prenatal diagnosis of a 22q11.2 microduplication in a fetus with normal development that was referred for chromosomal analysis at 17 weeks of gestation because of advanced maternal age. Pregnancy was the result of an IVF-ICSI attempt after 4 years of infertility, mainly due to severe oligoasthenoteratospermia of the father. Amniocentesis was undertaken and cytogenetic analysis revealed an apparently normal male karyotype. Multiple Ligation-dependent Probe Amplification (MLPA) revealed a microduplication in the 22q11.2 chromosome region. Parental analysis showed that the 22q11.2 microduplication has been inherited from the otherwise healthy mother. Analysis with high resolution array-CGH showed that the size of the microduplication is 2.5 Mb and revealed the genes that are duplicated, including the TBX1 gene. The parents elected to continue with the pregnancy and the infant is now five months old and shows normal development.

The fat content of small primary breast cancer interferes with radiofrequency-induced thermal ablation.

BACKGROUND: Radiofrequency (RF) thermal ablation is a minimally invasive technique of local mass elimination with variable efficiency. METHODS: Ten patients with small primary breast cancer diagnosed preoperatively by core needle biopsy were ablated percutaneously by an RF (Radionics Cool-tip) device operating on impedance control mode. The percent fat-containing area was calculated in each slide of a total of 47 slides introduced to IQ materials software image analysis. RESULTS: Seven of 10 tumors with tumor diameter less than 2.8 cm and fat content less than 12.47% were totally ablated (score 3). One of 10 with 3 cm tumor diameter and 5.45% fat content showed an intermediate degree of ablated tissue (score 2), and the last 2 with 2 cm and 2.2 cm tumor diameter and more than 19.74% tumor fat content were minimally ablated (score 1). Our present exploratory study on 10 patients suggests dependence of the degree of thermal damage on tumor fat content. CONCLUSIONS: We conclude that the fat content of small primary breast cancer could serve as a 'heat sink' and should be considered as a preventing factor of complete local tumor destruction by RF thermal ablation.