EP05.06: Distal Trisomy 10q: a rare genetic abnormality with unusual presentation as fetal axillary lymphangioma
نویسندگان
چکیده
منابع مشابه
Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.
متن کاملDistal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
KEY CLINICAL MESSAGE We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.
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A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
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Background: Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. Methods: Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, an...
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Colorectal carcinoma is one of the most common causes of cancer-related death, worldwide. Recently, due to the introduction of novel imaging and therapeutic techniques, five-year survival of patients has increased. However, distant metastasis is still expected in half of the patients. Colorectal cancer tends to target the abdominal cavity, liver, lungs, and bones as the common sites of metastas...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2019
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.21191