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Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay
Authors:Ana Paula dos Santos,Tá  rsis Paiva VieiraMilena Simioni,Fabí  ola Paoli MonteiroVera Lú  cia Gil-da-Silva-Lopes
Affiliation:Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil
Abstract:We describe a female patient of 1 year and 5 months-old, referred for genetic evaluation due to neuropsychomotor delay, hearing impairment and dysmorphic features. The patient presents a partial chromosome 21 monosomy (q11.2→q21.3) in combination with a chromosome 3p terminal monosomy (p25.3→pter) due to an unbalanced de novo translocation. The translocation was confirmed by fluorescence in situ hybridization (FISH) and the breakpoints were mapped with high resolution array. After the combined analyses with these techniques the final karyotype was defined as 45,XX,der(3)t(3;21)(p25.3;q21.3)dn,-21.ish der(3)t(3;21)(RP11-329A2-,RP11-439F4-,RP11-95E11-,CTB-63H24 +).arr 3p26.3p25.3(35,333-10,888,738)) × 1,21q11.2q21.3(13,354,643-27,357,765) × 1. Analysis of microsatellite DNA markers pointed to a paternal origin for the chromosome rearrangement. This is the first case described with a partial proximal monosomy 21 combined with a 3p terminal monosomy due to a de novo unbalanced translocation.
Keywords:Ter, terminal   FISH, fluorescence in situ hybridization   BERA, Brainstem Evoked Response Audiometry   TSH, thyroid stimulating hormone   FSH, follicle stimulating hormone   FT4, free thyroxine   LH, luteinizing hormone   BAC, bacterial artificial chromosome   APP, Amyloid Beta (A4) Precursor Protein   SOD1, Cu/Zn superoxide dismutase   SRGAP3, SLIT-ROBO Rho GTPase activating protein 3   CNTN4, contactin 4   CHL1, cell adhesion molecule with homology to L1CAM   CRBN, cereblon   ATP2B2, ATPase Ca     2 transporting plasma membrane 2
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