Primary Amenorrhoea due to Ovarian Agenesis - A Previously Undescribed Chromosome 12 Abnormality
نویسندگان
چکیده
منابع مشابه
Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality.
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.
متن کاملA previously undescribed tubulin binder.
Microtubules (MTs) are key components of the cytoskeleton for all eukaryotes and are vital for cellular processes such as mitotic spindle formation, intracellular transport, vesicle formation, cellular signaling, and migration. These functions depend on the dynamic nature of MTs, which arises from the polymerization and depolymerization events of individual heterodimers, made up of αand β-tubul...
متن کاملImplantable cardiac defibrillator pocket infection due to a previously undescribed Cupriavidus species.
The genus Cupriavidus consists of Gram-negative, nonfermenting bacteria most of which are environmental organisms, though some species have been associated with human disease. We report the recovery and identification of an isolate that represents a previously undescribed species of Cupriavidus from an implantable cardiac defibrillator pocket infection.
متن کاملA previously undescribed pathway for pyrimidine catabolism.
The b1012 operon of Escherichia coli K-12, which is composed of seven unidentified ORFs, is one of the most highly expressed operons under control of nitrogen regulatory protein C. Examination of strains with lesions in this operon on Biolog Phenotype MicroArray (PM3) plates and subsequent growth tests indicated that they failed to use uridine or uracil as the sole nitrogen source and that the ...
متن کاملDhaga syndrome: a previously undescribed entity.
Three children between the ages of 18 months and four years presented with a discharging sinus or sinuses at the wrist due to a 'sacred' thread (the Moli Dhaga) which had been tied around it. This thread had been forgotten by the parents and had become embedded in the soft tissues of the wrist. Plain radiographs showed a circumferential constriction in the soft tissue shadow in all three. In tw...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Genetic Syndromes & Gene Therapy
سال: 2010
ISSN: 2157-7412
DOI: 10.4172/2157-7412.1000101