Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent in Situ Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements.

We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father's side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks' gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes. Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

Ulcerative tracheitis among intubated neonates--a clinicopathologic study.

OBJECTIVE: To determine frequency of ulcerative tracheitis (UT) among intubated neonates and identify groups of neonates at greater risk of UT. METHODS: Medical histories and autopsy findings from 232 neonates between 1995 and 2006 were reviewed retrospectively. All neonates were treated at the Department of Neonatology, Clinical Hospital Center Split. Autopsies and histological examinations were performed at the Clinical Department of Pathology, Forensic Medicine and Cytology. Neonates were classified into groups based on their sex, gestational age, survival time and cause of death, duration and reasons for intubation. Simplified Wigglesworth classification was used to determine cause of death. Chi-squared test and multiple logistical regression analysis were used for statistical analysis. RESULTS: UT was found in 44 cases (18.96%). The main risk factor for UT development was duration of intubation, especially if it lasted over 96 h (P=0.005). Higher frequency of UT was noted in neonates with gestational age over 37 weeks (P=0.002) and birth weight over 2500 g (P=0.115). CONCLUSION: Our study has shown that the main risk factor for UT development was intubation duration exceeding 96 h. Term-borns, and neonates with normal birth weight both have higher risk of UT. High risk groups should be observed carefully and alternative respiratory support treatment, such as continues positive airway pressure (CPAP) may be considered.