De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
نویسندگان
چکیده
منابع مشابه
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...
متن کاملMosaic 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 Hospi...
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Primary neuroendocrine carcinoma (NEC) of the mediastinum is a rare type of carcinoma. According to the literature, only five cases of this condition have been reported so far. In this paper, we present a rare case of mediastinal NEC of unknown primary site. The patient was a 34-year-old man with mediastinal NEC, who presented with chronic dry cough and a right-sided mediastinal mass one year p...
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superior vena cava syndrome is a common presentation of bronchogenic carcinoma. the mechanism of obstruction is by compression of superior vena cava by the bronchogenic tumor itself or enlarged mediastinal lymph nodes. however obstruction due to intravascular thrombosis is extremely uncommon. here, we report a rare case of a 65-year-old male smoker who presented with superior vena cava syndrome...
متن کاملDe novo case of a partial trisomy 4p and a partial monosomy 8p.
The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1-->4pter and a deletion of a chromosomal segment 8p23.1-->8pter. His karyotype was determined by applying classical GTG banding and FISH m...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2020
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00513-2