Hyper-Eosinophilic Syndrome and Partial Duplication of Chromosome 21

Chromosome: A Possible Partial Duplication

One morphological variant of chromosome 1 in man differs from the more usual form of this chromosome in being longer and more submetacentric. This is due to increased length of the long arm and because there is apposition of chromatids in the paracentromeric region of the long arm (q). This variant, or similar appearing variants ofchromosome 1, have been found in 1 per 100 to 1 per 1000 newborn...

Partial trisomy of chromosome 21 without the Down syndrome phenotype.

Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan *Correspondence to: Pao-Lin Kuo. E...

Mosaic and partial monosomy of chromosome 21 in a case with low platelets count

Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...

Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.

Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.

An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which breakage of the dicentric resulted in a chromosome...