proptosis, micrognathia, low set ear and chest deformity in a patient with extra marker chromosome 22
نویسندگان
چکیده
there is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. the result of karyotype showed 47xx, with extra marker chromosome 22. although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease.
منابع مشابه
Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22.
There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestati...
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متن کاملA small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions.
We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-s...
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عنوان ژورنال:
acta medica iranicaجلد ۵۳، شماره ۱۲، صفحات ۷۸۲-۷۸۴
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