Partial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms
نویسندگان
چکیده مقاله:
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.
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, and a...
متن کاملPartial 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...
متن کاملA case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced par...
متن کاملA third case of de novo partial trisomy 4p.
Interestingly, the previously reported patient with a different but overlapping deletion of chromosome 12 long arm (q13.3-q21.1) and the subject of this report have only a few features in common (table). The deletion in each includes the portion 12q13.3 to q21. 1. It is unclear whether the small difference in the portion of 12q deleted accounts for the fact that they do not resemble each other ...
متن کاملPartial 10q trisomy with partial 12q monosomy.
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متن کاملDe novo partial trisomy 15q (proximal type).
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
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عنوان ژورنال
دوره 1 شماره 2
صفحات 87- 90
تاریخ انتشار 2013-05
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