A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 656-659

  Preiksaitiene, E ^a   Mannik K ^b   Dirse, V ^a   Utkus, A ^a   Ciuladaite, Z ^a   Kasnauskiene, J ^a   Kurg, A ^b   Kucinskas V ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

^b UNIVERSITY OF TARTU   (Estonia)

Author keywords

17q21.33 deletion; Intellectual disability

Indexed keywords

CELL PROTEIN; CHONDROADHERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANGER; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE AGE; BRAIN DEVELOPMENT; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINODACTYLY; CONGENITAL MALFORMATION; FACE MALFORMATION; GENOTYPE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; INTRAUTERINE GROWTH RETARDATION; IRRITABILITY; LANGUAGE DEVELOPMENT; LIP MALFORMATION; LONG FACE; LOWER LIP; MALE; MALOCCLUSION; MICROCEPHALY; MICROGNATHIA; MYOPIA; NOSE MALFORMATION; PSYCHOLOGIC ASSESSMENT; RESPIRATORY TRACT INFECTION; SLEEP DISORDER; WECHSLER INTELLIGENCE SCALE; WEIGHT GAIN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CALCIUM CHANNELS, T-TYPE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; EXTRACELLULAR MATRIX PROTEINS; FACIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUSCULAR ATROPHY; NERVE TISSUE PROTEINS; SYNDROME;

EID: 84867138730     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.008     Document Type: Article

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