A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 443-445

  Reddy, Sujana ^a   Dolzhanskaya, Natalia ^b   Krogh, Jacquelyn ^b   Velinov, Milen ^b  

^a RICHMOND UNIVERSITY MEDICAL CENTER   (United States)

^b NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Arching eyebrows; Clinodactyly; Deletion 1q21.3; EFNA1; EFNA3; EFNA4; Mental retardation; Microcephaly; Persistent fetal pads; Proximal 1q deletion

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOME; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; MENTAL RETARDATION; MICROCEPHALY;

EID: 70350619877     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.09.003     Document Type: Article

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