ABSTRACT
No abstract available.
Subject(s)
Aged , Humans , Male , Bone Marrow/pathology , Genome, Human , Isochromosomes/genetics , Karyotyping , Leukemia, Myeloid, Acute/complications , Loss of Heterozygosity , Oligonucleotide Array Sequence Analysis , Thrombocytosis/etiologyABSTRACT
No abstract available.
Subject(s)
Female , Humans , Infant , Aneuploidy , Bone Marrow/pathology , Chromosomes, Human, Pair 21 , Down Syndrome/complications , Hyperplasia/pathology , In Situ Hybridization, Fluorescence , Isochromosomes/genetics , Karyotype , Leukemia, Megakaryoblastic, Acute/complications , Megakaryocytes/pathologyABSTRACT
No abstract available.
Subject(s)
Child , Female , Humans , Bone Marrow/pathology , Burkitt Lymphoma/diagnosis , Chromosomes, Human, Pair 1 , Flow Cytometry , Immunoglobulin Heavy Chains/genetics , Isochromosomes/genetics , Karyotype , Karyotyping , Proto-Oncogene Proteins c-myc/genetics , Republic of Korea , Translocation, GeneticABSTRACT
Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.
Introducción: El Isocromoma 18q y la deleción del brazo corto del cromosoma 18 (18p-), son anomalías estructurales que se reportan con cierta frecuencia en la literatura. Sin embargo, la asociación de ambas alteraciones en una misma paciente es muy infrecuente. Objetivo: Descripción de un caso clínico de Isocromosoma 18 con énfasis en la escasas manifestaciones fenotípicas. Caso Clínico: Lactante femenino de 18 meses de edad portador de talla baja, dismorfias menores y un leve retraso del desarrollo sicomotor, cuyo estudio cromosómico en sangre periférica mostró un mosaico compuesto por un isocromosoma del brazo largo del cromosoma 18 y otro cromosoma 18 con deleción del brazo p. El análisis cromosómico de ambos padres no mostró alteraciones numéricas ni morfológicas. Discusión: Este caso ilustra la importancia de solicitar un cariograma en pacientes con talla baja, dismorfias y/o malformaciones. Se describen las malformaciones encontradas y se compara con otros casos similares descritos en la literatura. La alteración estructural en mosaico reportada es sumamente infrecuente.
Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/genetics , /genetics , Isochromosomes/genetics , Mosaicism , Facial Asymmetry/genetics , Chromosome Deletion , Developmental Disabilities/genetics , Growth Disorders/geneticsABSTRACT
A sindrome de Pallister Killian (SPK) e uma doenca rara caracterizada por multiplas malformacoes, retardo mental profundo e presenca de um isocromossomo...