Méndez RLA, Cruz MT, Garnier ÁT, Hernández GJ, Barrios MA

Language: English
References: 15
Page: 61-63
PDF size: 667.53 Kb.

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 I Doctor in Science. Assistant Professor. National Center of Medical Genetics. Havana city. Cuba. II Medical Doctor. Clinical Geneticist. Assistant Professor. Municipal Center of Medical Genetics. Holguín. Holguín.Cuba. III Medical Doctor. Neurologist. Municipal Center of Medical Genetics. Holguín. Cuba. IV Agronomy engineers. Professor Instructor. V Master in Sciences. Biologist. National Center of Medical Genetics. La Habana. Cuba. 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.

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