ABSTRACT
BACKGROUND: Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified by the impact of the partner chromosome imbalance. Familial transmission studies of RCT enable obtaining empirical risk figures that are essential for genetic counseling. In this study, pedigree data from carriers of a unique t(4;19)(p15.32;p13.3), ascertained by two children with WHS phenotype, were collected through five generations and empirical risk for different pregnancy outcomes was assessed. In addition, the phenotype-karyotype correlation was studied in two unbalanced children against the phenotypes of children (literature data) with pure monosomy 4p15.32 â pter and pure trisomy 19p13.3 â pter, accordingly. The phenotype analysis was conducted using the catalogue of traits according to the Munich Dysmorphology Database. Pedigree segregation analysis was conducted by the direct method according to Stengel- Rutkowski et al. RESULTS: A double segment imbalance, trisomy 19p13.3 â pter with monosomy 4p15.32 â pter, was diagnosed in WHS progeny at birth. No essential modification of WHS phenotype by the additional trisomy 19p was observed, except for a limited survivability (death in infancy). Pedigree segregation analysis covered 39 relatives showed the probability rate for liveborn with unbalanced karyotype of 3.7 ± 3.6% (1/27), for stillbirth/neonatal death at 7.4 ± 5.0% (2/27), for miscarriage at 22.2 ± 8.0% (6/27), for the chance of having a baby without unbalanced karyotype was estimated at 66.7 ± 9.1% (18/27). In addition, the value of 7.4% for genetic counseling for any carrier of RCT at risk for single segment 19p13.3 â pter imbalance at birth was evaluated as such value have not been estimated so far. CONCLUSION: Carriership of a t(4;19)(p15.32;p13.3) is at low risk for an unbalanced child at birth and for stillbirth/neonatal death but high for miscarriages. The chance of having a baby without unbalanced karyotype was estimated to be high. Monosomy 4p15.32 â pter together with trisomy 19p13.3 â pter as a double segment imbalance in children with WHS may be connected with a limited survivability in infancy.
ABSTRACT
Prostaglandin (PGE2 and PGI2) synthesis was determined in the cerebrospinal fluid (CSF) and serum of 19 hypoxic neonates at the age of 5-96 hours by using Enzyme Linked Immunosorbent Assay (ELISA) method. Control group consisted of 8 children of the same age whose samples were taken due to initial suspicion of neonatal meningitis. The prostaglandin concentrations in CSF were correlated with initial hypoxic-ischemic encephalopathy (HIE) stage and neurological findings of patients at the age of 12 months. The values of PGE2 and PGI2 in the CSF of children with perinatal hypoxia (PNH) were significantly higher than in the children from the control group. The values of PGI2 in serum were significantly higher than in "CSF" of patients with PNH. Although average values of PGE2 and PGI2 in the liquor were higher in children with advanced stage of HIE, the differences between different stages were not statistically significant. We did not find any significant correlation between average concentrations ofprostaglandins and neurological findings of the 12-month-old children.
