A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: Fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES)

Annales de Genetique

Volumn 47, Issue 4, 2004, Pages 405-417

  Lespinasse, J ^a   Testard, H ^b   Nugues, F ^c   Till, M ^d   Cordier, M P ^e   Althuser, M ^c   Amblard, F ^c   Fert Ferrer, S ^a   Durand, C ^c   Dalmon, F ^a   Pourcel, C ^f   Jouk, P S ^c  

^a General Hospital   (France)

^b Pneumology and Sleep Disorders Department   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

^f UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

10q); Nuchal translucency; RES; Subtelomeric translocation t (2p

Indexed keywords

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME IDENTIFICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEEDING DISORDER; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; INFANT; KARYOTYPE; MALE; NUCLEOTIDE SEQUENCE; RHOMBENCEPHALOSYNAPSIS;

CEREBELLUM; CHILD DEVELOPMENT; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 2; EATING DISORDERS; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; NUCHAL TRANSLUCENCY MEASUREMENT; RHOMBENCEPHALON; TELOMERE; TRANSLOCATION, GENETIC;

EID: 9644290920     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.07.005     Document Type: Article

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