Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

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Origin of sex chromosome monosomy in man.

There are striking contrasts when the apparent origin of the 45,X anomaly is compared with most trisomic conditions, and recent work gives interesting clues to the causes of sex-chromosome monosomy. Except for a small proportion of cases arising from secondary non-disjunction of primary trisomic subjects-or cells-and a further group of segregational examples arising from centric fusion heterozy...

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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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ژورنال

عنوان ژورنال: Molecular Cytogenetics

سال: 2011

ISSN: 1755-8166

DOI: 10.1186/1755-8166-4-23