Mislav Bastić

Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother

We present a case of trisomy for the whole short arm of chromosome 6 in a 3‐year‐old girl with moderate mental retardation, mild facial dysmorphism, short stature, failure to thrive, and no abnormalities of the visceral organs. Cytogenetic and fluorescence in situ hybridization (FISH) analysis revealed a 46, X, der(X)t(X;6)(q22; p11.1) karyotype. The derived X was late replicating with variable spreading of X chromosome inactivation onto the translocated 6p. A normal karyotype was observed in the father, while the mother presented 46,XX/46,XX, der(10)t(6;10)(p11;p11). The mother is a mosaic with unbalanced t(6;10) in 4.7% of cells. To the best of our knowledge, this unusual mosaicism has not yet been reported. In this family the short arm of chromosome 6 was involved in an unbalanced rearrangement with chromosome X in the proband and with chromosome 10 in the mother. In order to study the mechanism of the formation of t(X;6) in the girl we performed DNA polymorphism analysis. These investigations revealed that chromosomes X and 6 involved in the rearrangement are of paternal origin. Our patient exhibits only discrete facial features characteristic of partial trisomy 6p. We suggest that mild phenotypic expression be probably due to X chromosome inactivation spreading onto the translocated 6p. This report show that combined cytogenetic, FISH, and molecular analysis of chromosomal aberrations are necessary for the understanding of the mechanism of formation, parental origin, and genetic counseling.

Short-term “double natural orifice catheterization”: Nonoperative management of hydrocolpos in persistent cloaca patients – case series

PURPOSE Management of hydrocolpos in cloaca patients is of clinical importance. We report a nonoperative method for the management of hydrocolpos in the form of initial catheter decompression, followed by an endoscopy with catheters placement into both the bladder and vagina, and leaving these catheters for 9 and 14days respectively. METHODS The medical records of six cloaca patients with hydrocolpos in the last 12years were reviewed. The outcomes measured were the renal function, bladder emptying, the presence/resolution of hydronephrosis, and the recurrence of hydrocolpos. RESULTS Complete drainage of hydrocolpos was achieved in four out of six cases and partial drainage in two. On common channel endoscopy, in four patients the structures were identified and balloon catheters inserted. After catheter removal, the vagina and urinary tract remained adequately drained through the natural cloacal opening with no post-micturition residual urine, resolution of hydroneprosis within 60days, preserved renal function, and no hydrocolpos reaccumulation. CONCLUSION Initial decompression and short time catheterization can be the definite solution for some cloaca patients with hydrocolpos. Our case-series showed a success rate in two-thirds of patients by achieving the three main goals; permanent hydrocolpos derivation, undisturbed voiding, and preservation of renal function. LEVEL OF EVIDENCE Study can be classified as a Treatment Study, LEVEL IV Case series with no comparison group.