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A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.
J Clin Lab Anal
August 2020
División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, México.
Background: Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.
Case Presentation: A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.
A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental karyotypes were normal.
View Article and Find Full Text PDFThe intergenic spacer region of the rDNA in Haplopappus gracilis (Nutt.) Gray.
Protoplasma
June 2013
Dipartimento di Biologia, Università di Pisa, via L. Ghini, 56100, Pisa, Italy.
In this paper, we provide further information on the genome organisation of Haplopappus gracilis, one of the six angiosperms showing the lowest chromosome number, i.e. 2n = 4, by determining the nucleotide sequence of the intergenic spacer region of the ribosomal RNA genes and its cytological localization on metaphase chromosomes.
View Article and Find Full Text PDFThree patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.
Birth Defects Res A Clin Mol Teratol
July 2012
State Key Laboratory of Medical Genetics, Central South University, Changsha, China.
Background: Wolf-Hirschhorn syndrome (WHS) is caused by a deletion involving the 4p16.3 region. Approximately 70% of WHS patients have a de novo isolated deletion and 22% involve unbalanced translocations.
View Article and Find Full Text PDFDe novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome.
Genet Couns
July 2011
Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkey.
We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) testing at 18 weeks of gestation due to history of a previous child with Angelman Syndrome. PWS/AS region deletion was excluded by FISH.
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