نتایج جستجو برای: complete duplication

تعداد نتایج: 378964  

2013
George Sakellaris Konstantinos Velaoras

The complex embryogenesis of the kidney and drainage system accounts for the development and frequency of congenital abnormalities. A complete or incomplete double pyelocaliceal system is identified in 0.8% of postmortem examinations. As an incidental finding during intravenous urography, this percentage increases to 3%, of which in 40% of cases, the finding is bilateral. The term “renal duplic...

2017
Hiroko Fukushima Toru Nanmoku Sho Hosaka Yuni Yamaki Nobutaka Kiyokawa Takashi Fukushima Ryo Sumazaki

The duplication of 5' segment of KMT2A is a rare molecular event in childhood leukemia, and the influence on prognosis is unknown. Here, we report on a boy who developed acute monocytic leukemia. Fluorescence in situ hybridization revealed the duplication of the 5' segment with 2 normal alleles at KMT2A which was eventually found to be fused with MLLT10. Chemotherapy promptly induced the first ...

2016
Adonis Pino Arlenis Pérez Aine Seavers Guillermo Hermo

Caudal duplication (dipygus) is an uncommon pathologic of conjoined twinning. The conjoined malformation is classified according to the nature and site of the union. We report the presence of this malformation in a female crossbreed puppy. The puppy was delivered by caesarean section following a prolonged period of dystocia. External findings showed a single head (monocephalus) and a normal cra...

Journal: :Genetics 1993
M Steinemann S Steinemann

Evolutionary changes during the process of sex chromosome differentiation in Drosophila miranda are associated with massive DNA rearrangements. Comparing the DNA structure of the larval cuticle protein (Lcp) region from the X2 and neo-Y chromosome pair, we observed insertions, deletions and a large duplication at the neo-Y chromosomal locus. The duplication encompasses a complete copy of the ne...

Journal: :Genetics 1989
T Ohta

Evolution by compensatory mutations is accelerated by gene duplication because selective constraint is relaxed by gene redundancy. A mutation is called compensatory if it corrects the effect of an earlier deleterious mutation. Without duplication, Kimura has shown that the time for spreading of compensatory mutations is much reduced by tight linkage between the two chromosomal sites of mutation...

2013
Rohini Motwani Pooja Jain

Original Article Lower limb veins are most prone for venous disorders. Complete knowledge of the variations of great saphenous vein is of immense importance in assessment of clinical conditions like varicose veins, deep vein thrombosis and venous ulcer. Duplication of long saphenous vein is one of the potential reasons behind recurrence of varicosity after successful surgery. The present study ...

2016
Theodoros Thomopoulos Coppelia Farin Benoit Navez

BACKGROUND Gastric duplication is a rare malformation mostly diagnosed during childhood. Symptoms in adults are atypical, rare, or may be completely absent. The diagnosis is suggested after a morphological and histological assessment. The treatment is a complete surgical resection. CASE REPORT We report on a case of a 28-year-old woman referred to our unit for a surgical assessment of a gastr...

2012
Hyun Seok You Su Bin Park Jin Hee Kim Hyun Jeong Lee Seong Pil Jang Gwang Ha Kim Geun Am Song

Duodenal duplication cyst is a rare anomaly, totaling only 4% to 12% of gastrointestinal duplications, and is usually encountered during infancy or in early childhood. Most are commonly located posterior to the first or second portion of the duodenum. Presenting signs and symptoms include vomiting, decreased oral intake, periumbilical tenderness, abdominal distention, obstructive jaundice, acut...

2013
Nikolaos Karpathakis Georgia Vasileiou Konstantinos Fasoulakis Ioannis Heretis

Duplication of the lower urinary tract is a very rare congenital anomaly which is diagnosed either at birth or during early childhood. These rare malformations are most of the times accompanied by other concomitant anomalies and are therefore diagnosed immediately after birth. In some even rarer cases there are no concomitant anomalies and symptoms thus leading to a diagnosis later in childhood...

2017
Michela Ceriotti Giorgia Saccomani Francesca Lacelli Giovanni E. Saccomani

Alimentary tract duplications are uncommon congenital abnormalities usually diagnosed and treated in childhood. Rectal involvement is extremely rare. We report the case of a 22-year-old female who presented with chronic abdominal and perianal pain; feeling of rectal fullness. Workup revealed a rectal duplication cyst. The patient underwent a complete transabdominal excision of the cyst: an hybr...

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