263.4kb deletion within the tcf4 gene consistent with pitt-hopkins syndrome, inherited from a mosaic parent with normal phenotype

European Journal of Medical Genetics

Volumn 56, Issue 6, 2013, Pages 314-318

  Kousoulidou, Ludmila ^a   Tanteles, George ^a   Moutafi, Maria ^a   Sismani, Carolina ^a   Patsalis, Philippos C ^a   Anastasiadou, Violetta ^a,b  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b Archbishop Makareios III Hospital   (Cyprus)

Author keywords

400K custom array CGH; Breathing abnormalities; Mental retardation; Mosaic TCF4 deletion; Pitt Hopkins syndrome; Speech delay

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FACE DYSMORPHIA; GENE DELETION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HUMAN; HYPERVENTILATION; INHERITANCE; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MOSAICISM; NEUROLOGIC DISEASE; PARENT; PHENOTYPE; PITT HOPKINS SYNDROME; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; TISSUE SPECIFICITY; ADULT; CHROMOSOME BANDING PATTERN; FACIES; FEMALE; GENETICS;

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; TCF4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENE DELETION; HUMANS; HYPERVENTILATION; INTELLECTUAL DISABILITY; KARYOTYPE; MALE; MOSAICISM; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84878439230     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.03.005     Document Type: Article

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