Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

European Journal of Medical Genetics

Volumn 54, Issue 1, 2011, Pages 67-72

  Wohlleber, Eva ^a   Kirchhoff, Maria ^b   Zink, Alexander M ^a   Kreiß Nachtsheim, Martina ^a   Küchler, Alma ^c   Jepsen, Birgit ^d   Kjaergaard, Susanne ^b   Engels, Hartmut ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d HOLBÆK HOSPITAL   (Denmark)

Author keywords

Developmental delay; Mental retardation; Microdeletion 2p14 p15; Molecular karyotyping

Indexed keywords

ANTICONVULSIVE AGENT; GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME DELETION; COMMUNICATION SKILL; COPY NUMBER VARIATION; DEVELOPMENTAL COORDINATION DISORDER; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA DETERMINATION; EVOKED BRAIN STEM AUDITORY RESPONSE; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; FUNNEL CHEST; GRAND MAL SEIZURE; HUMAN; HYPERMETROPIA; JOINT HYPERMOBILITY; KARYOTYPING; LANGUAGE DEVELOPMENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PERCEPTION DEAFNESS; PHYSIOTHERAPY; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SCHOOL CHILD; SITTING; SOCIAL INTERACTION; SPEECH DEVELOPMENT; SYNDACTYLY; WALKING;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; DATABASES, GENETIC; FEMALE; GENE DOSAGE; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION;

EID: 79951951108     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.09.012     Document Type: Article

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