High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: Ring chromosome 19 and partial duplication 2q

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 310-318

  Hermsen, Mario A J A ^a   Tijssen, Marianne ^b   Acero, Ines Hernando ^c   Meijer, Gerrit A ^b   Ylstra, Bauke ^b   Toral, Joaquín Fernández ^c  

^a DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

Chromosomal disorder; Genotype phenotype evaluation; Microarray CGH; MLPA

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; HUMAN; HYPOPIGMENTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; RING CHROMOSOME; TELOMERE; TRISOMY;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 2; CRANIOFACIAL ABNORMALITIES; FEMALE; GENOTYPE; HUMANS; HYPOPIGMENTATION; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; RING CHROMOSOMES; SYNDROME;

EID: 25144518149     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.009     Document Type: Article

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