7qトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
UpToDate Contents
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English Journal
- Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
- Louvrier C1, Egea G, Labalme A, Des Portes V, Gazzo S, Callet-Bauchu E, Till M, Sanlaville D, Edery P, Schluth-Bolard C.
- Cytogenetic and genome research.Cytogenet Genome Res.2015 Dec 16. [Epub ahead of print]
- Supernumerary ring chromosomes (SRC) are usually derived from regions adjacent to the centromere. Their identification may be challenging, particularly in case of low mosaicism. Here, we report on a patient who was referred for major in utero growth retardation, severe developmental delay, facial dy
- PMID 26669311
- Short sternum: feature of trisomy chromosome 7 and a new association?
- Balasubramanian M1, Peres LC.
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.Pediatr Dev Pathol.2014 Jan-Feb;17(1):70-2. doi: 10.2350/13-11-1405-LET.1. Epub 2013 Dec 26.
- PMID 24369786
- Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.
- Mazzaschi RL1, Ashton F, Aftimos S, George AM, Love DR.
- Sultan Qaboos University medical journal.Sultan Qaboos Univ Med J.2013 May;13(2):306-10. Epub 2013 May 9.
- We report here a 4-year-old boy with global developmental delay who was referred for karyotyping and fragile X studies. A small interstitial deletion on chromosome 7 at band 7q21 was detected in all cells examined. Subsequent molecular karyotype analysis gave the more detailed result of a 6.3 Mb het
- PMID 23862039
Japanese Journal
- Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome
- West症候群を合併した7番染色体長腕端部トリソミー症候群の1例
Related Links
- Trisomy 7q symptoms, causes, diagnosis, and treatment information for Trisomy 7q (Chromosome 7, trisomy 7q) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...
- Partial trisomy 7q symptoms, causes, diagnosis, and treatment information for Partial trisomy 7q (Chromosome 7q duplication syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
★リンクテーブル★
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- 英
- trisomy 7q
- 関
- 7番染色体