A Case of Severe Mental and Developmental Retardation Associated with 14q Terminal Monosomy/5q Terminal Trisomy

• Hirayama Tsunenori

  Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled Department of Pediatrics, National Hospital Organization (NHO) Fukushima Hospital Department of Pediatrics, Graduate School of Medicine, Nippon Medical School

抄録

I previously described the case of a 19 year-old female with severe mental retardation, developmental retardation, microcephalus, short stature, bilateral microphthalmia, ptosis and blepharophimosis¹. Now, I present clinical descriptions of her half-siblings, who have a different father. Subtelomeric fluorescence in situ hybridization (FISH) analysis of the proband demonstrated 5q terminal trisomy and 14q terminal monosomy. I presume that her mother harbors a balanced translocation between the terminal of chromosome 5q and 14q. I suggest that familial cases of mental retardation and dysmorphic features should be screened for terminal chromosomal abnormalities by FISH or comparative genomic hybridization (CGH), even if G-banding analysis or high-resolution chromosome analysis is normal.<br>

収録刊行物

• 日医大誌

  日医大誌 77 (1), 40-44, 2010

  日本医科大学医学会

キーワード

• subtelomere
• 5q terminal trisomy
• 14q terminal monosomy
• chromosomal aberration
• fluorescence <i>in situ</i> hybridization

詳細情報

• CRID: 1390282680072216704
• NII論文ID: 130004147026
• DOI: 10.1272/jnms.77.40
• ISSN: 13473409
• ISSN: 13454676
• Web Site: http://www.jstage.jst.go.jp/article/jnms/77/1/77_1_40/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2010196895
• 本文言語コード: en
• データソース種別:
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