A DE NOVO (1;2;3;15;18) CHROMOSOME REARRANGEMENT WITH SIX NONRECIPROCAL TRANSLOCATIONS

From: Genetic Counseling | Date: July 1, 2007| Author: Rivera, H; Domà ­ nguez, M G; Crolla, J A; Harrison, C J; Jalali, G R | Copyright information

Summary: A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations: A de novo complex chromosome rearrangement (CCR) found in a phenotypically abnormal boy was characterized by G-bands, FISH with subtelomere probes, and M-FISH. The G-banding analysis revealed involvement of chromosomes 1, 2, 3, 15, and 18 with (at least) eight breakpoints, five nonreciprocal translocations (1q[arrow right]2q[arrow right]18q[arrow right]15q[arrow right]2p[arrow right]lq), and a 3p ...

Related newspaper, magazine, and journal articles from HighBeam Research

Mixed Linkage (1[arrow right]3),(1[arrow right]4)-[beta]-D-Glucans of Grasses
Cereal Chemistry ; ABSTRACT The mixed-linkage (1[arrow right]31[arrow right]4beta]-D-glucans are unique to the Poales, the taxonomic order that includes the cereal grasses. (1[arrow right]3), (1[arrow right]4beta]-Glucans are the principal molecules associated with cellulose microfibrils during cell growth, and they
Topology of the Maize Mixed Linkage (1[arrow right]3),(1[arrow right]4)-[beta]-D-Glucan Synthase at the Golgi Membrane1
Plant Physiology ; Mixed-linkage (1[arrow right]31[arrow right]4beta]-D-glucan is a plant cell wall polysaccharide composed of cellotriosyl and cellotetraosyl units, with decreasingly smaller amounts of cellopentosyl, cellohexosyl, and higher cellodextrin units, each connected by single (1[arrow
Natural and Modified (1[arrow right]3)-[beta]-D-Glucans in Health Promotion and Disease Alleviation
Critical Reviews in Biotechnology ; ABSTRACT A number of polysaccharides with β-glycosidic linkage are widespread in nature in a variety of sources. All have a common structure and the (1[arrow right]3946;-D-glucan backbone is essential. They have attracted attention over the years because of their bioactive and medicinal
Molecular Cloning of a [beta]-Galactosidase from Radish That Specifically Hydrolyzes [beta]-(1[arrow right]3)- and [beta]-(1[arrow right]6)-Galactosyl Residues of Arabinogalactan Protein1
Plant Physiology ; A basic β-galactosidase with high specificity toward β-(1[arrow right]3)- and β-(1[arrow right]6)-galactosyl residues was cloned from radish (Raphanus sativus) plants by reverse transcription-PCR. The gene, designated RsBGAL1, contained an open reading frame consisting of 2,532 bp
HOMOZYGOSITY OF Hb G-COUSHATTA COMBINED WITH HETEROZYGOUS IVS-I-110(G[arrow right]A) IN AN ADULT PATIENT
Genetic Counseling ; The male proband of Turkish descendance was 35 years of age at the time of the examination. The clinical indication for hematological analysis was the request for HbA 1c quantification during diabetes follow-up associated with hyperlipidemia. Routine HbA 1c examination by cation exchange high