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'); Reports of Biochemistry and Molecular Biology rbmb.net Basic Sciences http://rbmb.net 1 admin 2322-3480 2322-3480 10.61882/rbmb en jalali 1392 2 1 gregorian 2013 5 1 1 2 online 1 fulltext
en Partial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms بیوشیمی Biochemistry <p style="text-align: justify;"><em><strong>Background:</strong></em> 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.</p> <p style="text-align: justify;"><em><strong>Methods:</strong></em> 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, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).</p> <p style="text-align: justify;"><em><strong>Results:</strong></em> Cytogenetic analysis (GTG-banding) revealed an unbalanced female karyotype with additional bands at the end of the long arm of chromosome 10, karyotype: 46,XX,dup(10)(q25q26). Conclusion: According to the banding pattern it is most likely that a duplication of the distal part of the long arm of chromosome 10 occurred.</p> De novo, Distal, Trisomy, 10q 87 90 http://rbmb.net/browse.php?a_code=A-10-1-14&slc_lang=en&sid=1 Aliakbar Rahbarimanesh 10031947532846005941 10031947532846005941 No Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595 Pupak Derakhshandeh-Peykar derakhshandeh@tums.ac.ir 10031947532846005942 10031947532846005942 Yes Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595-Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595-Medizinisch Genetisches Zentrum (MGZ), Munich, Germany, P.O. Box 201412 Amirhassan Barkhordari 10031947532846005943 10031947532846005943 No Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595 Reza Ebrahimzadeh-Vesal 10031947532846005944 10031947532846005944 No Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595 Soja Shamizadeh Kalkhoran 10031947532846005945 10031947532846005945 No Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595