AB072. Double aneuploidy of Down-Turner syndrome and Down-Klinefelter syndrome: case report and review
نویسندگان
چکیده
منابع مشابه
Down-Turner syndrome: case report and review.
We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can ...
متن کاملDown-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case R...
متن کاملDown-Klinefelter Syndrome with Multiple Dysmorphic Features: Case Report and Literature Review
Objective: The Down-Klinefelter syndrome (48,XXY,+21) is a rare chromosome abnormality. The aim is to describe the clinical features and diagnosis of rare event. Method: Case report and literature review Case presentation: A newborn boy was presented to our unit because of cyanosis for 13 hours after birth. He was born at 38 weeks' gestation without asphyxia via caesarean section due to oligohy...
متن کاملGraves’ Disease and Down Syndrome: Case Report
Down syndrome (DS) is the most common chromosomal abnormality in humans, and the most frequent cause of mental retardation. Patients affected by this syndrome show an increased prevalence of autoimmune diseases. The most common of those is Hypothyroidism. We present a case report describing the association of Down syndrome with Hyperthyroidism. An 18-year-old patient presented with a history of...
متن کاملKlinefelter syndrome: Case report.
OBJECTIVES.: The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. METHODOS.: Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. RESULT.: Interceptive therapy aims to eliminate the functional interference that occurs during growth. CONCLUSION.: For this reason it's a must for t...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2017
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2017.s072