Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.

摘要: This is a report of 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands trypsin using Giemsa (GTG) analysis and fluorescence situ hybridization (FISH) chromosome-18 region-specific probes, 46,XX,del(18)(pter → q21.33:)[41], 46,XX,r(18)(::p11.21 q21.33::)[8], 46,XX,der(18)(pter q21.33::p11.21 pter)[1]. On the other hand, karyotype periodontal ligament fibroblasts nonmosaic, 46,XX, der(18)(pter pter)[50]. All cell lines appeared to be missing portion 18q (q21.33 qter). The pattern dup(18p)/del(18q) rod configuration raises possibility inversion chromosome 18 one parents. However, no anomaly detected either parent. most probable explanation that ring configurations arose simultaneously from intrachromosomal exchange. unique phenotype this patient, which included primary hypothyroidism hypogonadism, discussed relation her karyotype.