Characterization of sSMC by FISH and molecular techniques

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 247-255

  Sheth, Frenny ^a   Andrieux, Joris ^b   Ewers, Elisabeth ^c   Kosyakova, Nadezda ^c   Weise, Anja ^c   Sheth, Harsh ^d   Romana, Serge Pierrick ^e   LeLorc'h, Marc ^e   Delobel, Bruno ^f   Theisen, Olivier ^f   Liehr, Thomas ^c   Nampoothiri, Sheela ^g   Sheth, Jayesh ^a  

^a FRIGE Foundation for Research in Genetics and Endocrinology   (India)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f GHICL   (France)

^g AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Array CGH; Dysmorphism; FISH; Supernumerary marker chromosome

Indexed keywords

ADULT; AMBIGUOUS GENITALIA; AMNION FLUID; ARTICLE; BLOOD; BODY DYSMORPHIC DISORDER; CENTROMERE; CHILD; CONGENITAL MALFORMATION; CYTOGENETICS; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; INFANT; KARYOTYPING; MALE; OLIGONUCLEOTIDE PROBE; PHENOTYPE; PRESCHOOL CHILD; SHORT STATURE; SUPERNUMERARY CHROMOSOME;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 79955470988     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.01.011     Document Type: Article

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