A boy with 9p+ resulting from maternal t(4;9) translocation:a case report
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A boy with 9p+ resulting from maternal t(4;9) translocation:a case report
A boy with 9p+ resulting from maternal t(4;9) translocation:a case report
解放军医学杂志(英文版)2007年第4期 页码:255-258
Affiliations:
1. Department of Medical Genetics DungWah Hospital
2. Sun Yat-sen University
3. ,Changsha,410000
4. Department of Pediatrics
5. TungWah Hospital
6. National Detection Center of Cytogentics of China
Author bio:
Funds:
DOI:
中图分类号:R596
纸质出版:2007
Accepted:
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A boy with 9p+ resulting from maternal t(4;9) translocation:a case report[J]. 解放军医学杂志(英文版), 2007,(4):255-258.
[1]刘彦慧,王健,王秀芝,黎丽芬,戴和平,夏家辉.A boy with 9p+ resulting from maternal t(4;9) translocation:a case report[J].Journal of Medical Colleges of PLA,2007(04):255-258.
A boy with 9p+ resulting from maternal t(4;9) translocation:a case report[J]. 解放军医学杂志(英文版), 2007,(4):255-258.DOI:
[1]刘彦慧,王健,王秀芝,黎丽芬,戴和平,夏家辉.A boy with 9p+ resulting from maternal t(4;9) translocation:a case report[J].Journal of Medical Colleges of PLA,2007(04):255-258.DOI:
A boy with 9p+ resulting from maternal t(4;9) translocation:a case report
摘要
Abstract
<正>Increasing cases of 9p syndrome have been reported since the first description in 1970.In the present case
a extra segment of the end of chromosome 9p resulting from a maternally inherited transloca- tion t(4;9)(q31;p24)was described in a liveborn boy with mental retardation and multiple congenital anomalies.The extra part of chromosome 9p includes segment of the chromosome region 4q31→qter of his mother but deletes a small segment 9p24→pter.To our knowledge
this is the first case described in a liveborn child.This paper also includes a review and tabulation of clinical features seen in the 34 reported cases.The new case had most characteristics reported cases besides worried face
fat and abnormal lower digestion tract
which is a modification and double expansion of the previous summarization on 9p syn- drome.
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