Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

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Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.

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Dicentric Y chromosome in an azoospermic male.

We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not d...

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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...

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Change in chromosome number associated with a double deletion in the Neurospora crassa mitochondrial chromosome.

The mitochondrial genome of Neurospora is usually found in a single covalently closed circular 62-kbp DNA molecule. We report here that the mitochondrial genome of a phenotypic revertant of a stopper mutant (stp-ruv) is contained primarily in two separate, nonoverlapping, autonomously replicating circular chromosomes. The circles, one about 21 kbp and the other somewhat less than 36 kbp are der...

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ژورنال

عنوان ژورنال: Clinical Case Reports

سال: 2015

ISSN: 2050-0904,2050-0904

DOI: 10.1002/ccr3.313