ABSTRACT
This report describes a patient who presented with hypotonia and epileptic seizures. She was prenatally diagnosed as a supernumerary chromosome carrier. By means of Fluorescence in Situ Hybridization (FISH) using Vysis Prader-Willi/Angelman region probes, the marker chromosome was double positive for D15Z1 and quadruple positive for SNRPN. Her karyotype was thus interpreted as 47, XX,+ idic(15)(pter→q13::q13→ pter) .ish idic (15)(D15Z1++, SNRPN++++). No sphincters control and signs of kyphoscoliosis may provide additional evidence for the spectrum of clinical manifestations in the inv dup (15) syndrome to be broader than previously considered. The mother had a history of two miscarriages and one molar pregnancy, it suggests she could have been prone to unsuccessful meiosis. The existence of genetic or environmental factors predisposing to chromosomal aberrations and its correlation with the common instability of this chromosomal region are issues to be further investigated...(AU)
Subject(s)
Humans , Male , Female , In Situ Hybridization, Fluorescence , Genetic Markers , Complementary TherapiesABSTRACT
Routine karyotyping of an eleven-year-old female being investigated for proportional short stature revealed a 44, X, der(15; 22)(q10;q10) karyotype. This is the first case report of a patient with monosomy X and an aparently balanced 15:22 translocation(AU)
El cariotipo de rutina de un individuo del sexo femenino de once años de edad, que estaba siendo estudiado por una baja talla proporcionada, reveló el siguiente resultado: 44, X, der(15; 22)(q10;q10). En este trabajo se reporta el hallazgo cromosómico en el que se combina una monosomía del X y una translocación 15:22 aparentemente balanceada(AU)
