partial distal 10q trisomy due to de novo amplification: a new case without furrows or ridges in fingers and palms

نویسندگان

aliakbar rahbarimanesh bahrami hospital, medical sciences/university of tehran, iran, po box 14155-1595

pupak derakhshandeh-peykar tel.: +49 89- 15254230228; fax: +49 89- 309088666

amirhassan barkhordari bahrami hospital, medical sciences/university of tehran, iran, po box 14155-1595

reza ebrahimzadeh-vesal department of medical genetics, medical sciences/university of tehran, iran, po box 14155-1595

چکیده

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.

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منابع مشابه

Partial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms

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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Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.

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 a...

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عنوان ژورنال:
reports of biochemistry and molecular biology

جلد ۱، شماره ۲، صفحات ۸۷-۹۰

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