Volume 1, Issue 2 (Vol.1 No.2 Apr 2013)                   rbmb.net 2013, 1(2): 87-90 | Back to browse issues page

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Rahbarimanesh A, Derakhshandeh-Peykar P, Barkhordari A, Ebrahimzadeh-Vesal R, Shamizadeh Kalkhoran S. Partial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms. rbmb.net. 2013; 1 (2) :87-90
URL: http://rbmb.net/article-1-35-en.html
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
Abstract:   (3001 Views)

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, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).

Results: 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.

Keywords: De novo, Distal, Trisomy, 10q
Full-Text [PDF 167 kb]   (751 Downloads)    
Subject: Biochemistry
Received: 2016/08/21 | Accepted: 2016/08/21 | Published: 2016/08/21

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