9トリソミーモザイク
WordNet
- the condition in which an organism has two or more cell populations that differ in genetic makeup
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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English Journal
- Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping.
- Lockhart EL1, Combs MR, Buck A, Horn S, Deak K.
- Transfusion.Transfusion.2013 Sep;53(9):1884. doi: 10.1111/trf.12094.
- PMID 24015938
- Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.
- Gulten T1, Gorukmez O, Gorukmez O, Karkucak M, Ture M, Yakut T.Author information 1Uludag University, Medical Faculty, Medical Genetics Department, Turkey. tunag@uludag.edu.trAbstractMarker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.
- The West Indian medical journal.West Indian Med J.2012 Dec;61(9):924-7.
- Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wid
- PMID 24020236
- Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling.
- Patil SJ1, Ponnala R, Shah S, Dalal A.Author information 1Department of Clinical Genetics, Centre for Molecular and Metabolic Diagnostics & Research Narayana Hrudayalaya Institute of Medical Sciences, Narayana Hrudayalaya Health City, No 258/A, Bommasandra Industrial Area, Anekal Taluq, Bangalore 560099, India. drsjpatil@gmail.comAbstractChromosomal mosaicism for full aneuploidy involving chromosome 9 is an uncommon chromosomal abnormality. Mosaic trisomy 9 clinical manifestations are highly variable and difficult to predict. The authors present a case of mosaic trisomy 9 with typical clinical manifestations(facial dysmorphism, various internal organ malformations and severe psychomotor retardation), pigmentary mosaic skin lesions along the lines of Blaschko and evidence of maternal uniparental disomy in skin.
- Indian journal of pediatrics.Indian J Pediatr.2012 Jun;79(6):806-9. doi: 10.1007/s12098-011-0567-x.
- Chromosomal mosaicism for full aneuploidy involving chromosome 9 is an uncommon chromosomal abnormality. Mosaic trisomy 9 clinical manifestations are highly variable and difficult to predict. The authors present a case of mosaic trisomy 9 with typical clinical manifestations(facial dysmorphism, vari
- PMID 21975655
Japanese Journal
- 症例 14トリソミーが見出されたLiner and Whorled Nevoid Hypermelanosisの1例
- Long survival case of trisomy 13 mosaicism in a 7-year-old male
- Imataka George,Tsuboi Tatsuo,Tsukada Keiko,Watabe Yoshiyuki,Hagisawa Susumu,Ohwada Yoko,Arisaka Osamu
- Dokkyo journal of medical sciences 39(1), 81-84, 2012-03-25
- … Trisomy 13 is a complication of various congenital abnormalities of the heart, brain, etc. … We herein report on the case of a 7-year 1-month-old boywith mosaicism trisomy 13 with the two considerations mentioned below as the cause for long-term survivalin this case. …
- NAID 110009040105
- Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues
- MAZZA Vincenzo,LATELLA Silvia,FENU Valentina,FERRARI Paola,BONILAURI Carlotta,SANTUCCI Sandra,PERCESEPE Antonio
- The journal of obstetrics and gynaecology research 36(5), 1116-1120, 2010-10-01
- NAID 10031121755
★リンクテーブル★
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- 英
- trisomy 9 mosaicism
- 関
- 9番染色体