Search results for "Derivative chromosome"

showing 2 items of 2 documents

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocat…

2006

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the tr…

AdultMaleDerivative chromosomeAdolescentGene DosageautismChromosomal translocationTrisomyBiologyGene dosagePolymerase Chain ReactionTranslocation GeneticCellular and Molecular NeurosciencemedicineHumansAutistic DisorderChildGenetics (clinical)In Situ Hybridization FluorescenceChromosome 13GeneticsChromosomes Human Pair 13ChromosomeTelomereSubtelomeremedicine.diseasePsychiatry and Mental healthfrontal bossingFemaleTrisomyChromosome 21American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
researchProduct

MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORM…

1996

Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:…

Cri-du-Chat SyndromeDerivative chromosomeMarker chromosomeChromosomal translocationBiologyPolymerase Chain ReactionTranslocation GeneticChromosome (genetic algorithm)PregnancyPrenatal DiagnosismedicineHumansWolf–Hirschhorn syndromeIn Situ Hybridization FluorescenceGenetics (clinical)Chromosomal inversionChromosome 13Chromosome AberrationsGeneticsChromosomes Human Pair 13DissectionInfant NewbornObstetrics and Gynecologymedicine.diseaseMolecular biologyGenetic TechniquesChromosome 3FemaleChromosomes Human Pair 3Chromosomes Human Pair 4Gene DeletionChromosomes Human Pair 8Prenatal Diagnosis
researchProduct