Aliakbar Rahbarimanesh1, Pupak Derakhshandeh-Peykar2, Amirhassan Barkhordari1, Reza Ebrahimzadeh-Vesal3, Soja Shamizadeh Kalkhoran1. 1. Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595. 2. 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. 3. Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Abstract
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.
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.
Authors: H Knoblauch; D Sommer; C Zimmer; C Tennstedt; K Heling; R Bollmann; C Bommer; S Tinschert; H Körner Journal: Prenat Diagn Date: 1999-04 Impact factor: 3.050
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