نتایج جستجو برای: chromosome 16

تعداد نتایج: 446673  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1990
T P Keith P Green S T Reeders V A Brown P Phipps A Bricker K Falls K S Rediker J A Powers C Hogan

We have constructed a genetic linkage map of human chromosome 16 based on 46 DNA markers that detect restriction fragment length polymorphisms. Segregation data were collected on a set of multigenerational families provided by the Centre d'Etude du Polymorphisme Humain, and maps were constructed using recently developed multipoint analysis techniques. The map spans 115 centimorgans (cM) in male...

Journal: :Genetics 2005
Tracey L Petryshen Andrew Kirby Ronald P Hammer Shaun Purcell Sinead B O'Leary Jonathan B Singer Annie E Hill Joseph H Nadeau Mark J Daly Pamela Sklar

Prepulse inhibition (PPI) of acoustic startle is a genetically complex quantitative phenotype of considerable medical interest due to its impairment in psychiatric disorders such as schizophrenia. To identify quantitative trait loci (QTL) involved in mouse PPI, we studied mouse chromosome substitution strains (CSS) that each carry a homologous chromosome pair from the A/J inbred strain on a hos...

Journal: :Journal of medical genetics 2002
C Hernando A Plaja M A Rigola M M Pérez T Vendrell J Egocue C Fuster

Chromosome alterations, including numerical and structural chromosome rearrangements, are implicated in abnormal fetal development and congenital malformations. At least 50% of all first trimester spontaneous abortions are cytogenetically abnormal and about 6% of all postnatal congenital malformations are related to visible cytogenetic alterations detected by conventional G banding. 2 These per...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1990
H Tsuda W D Zhang Y Shimosato J Yokota M Terada T Sugimura T Miyamura S Hirohashi

Loss of heterozygosity on chromosome 16 is a common genetic alteration in human hepatocellular carcinoma (HCC). To clarify the pathogenetic significance of allele loss on chromosome 16, we performed restriction fragment length polymorphism analysis of 70 surgically resected tumors by using 15 polymorphic DNA markers for chromosome 16. Loss of heterozygosity on chromosome 16 was detected in 36 (...

Journal: :American journal of medical genetics 1994
M McDonald S Maynard S Sheldon J Innis

This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5-->qter and monosomy 16p 13.3-->pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the poss...

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