9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 360-362

  Zweier, Christiane ^a   Guth, Sabine ^a   Schulte Mattler, Uta ^b   Rauch, Anita ^a   Trautmann, Udo ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Children's Center Saint Martin   (Germany)

Author keywords

Blepharospasm; Mental retardation; Persistent ductus omphaloentericus; Short stature; Tic

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME BAND; CHROMOSOME DELETION; CLINICAL FEATURE; FACE DYSMORPHIA; HUMAN; LABORATORY TEST; MALE; MENTAL DEFICIENCY; PERSISTENT DUCTUS OMPHALOENTERICUS; PERSISTENT FETUS CIRCULATION; PRESCHOOL CHILD; SURGICAL TECHNIQUE; TIC;

CHILD; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CRANIOFACIAL ABNORMALITIES; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SYNDROME; TICS; VITELLINE DUCT;

EID: 25144495131     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.016     Document Type: Article

References (3)

1. M. Alvarado, M. Bocian, and A.P. Walker Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype Am. J. Med. Genet. 27 1987 781 786
2. Z. Pawlowska, P. Baranska, H. Jerczynska, W. Koziolkiewicz, and C.S. Cierniewski Heat shock proteins and other components of cellular machinery for protein synthesis are up-regulated in vascular endothelial cell growth factor-activated human endothelial cells Proteomics 5 2005 1217 1227
3. K. Wai-tai, L. Wai-fan, L. Fai-man, C. Wing-kwong, and L. Tak-sum Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype Am. J. Med. Genet. 120A 2003 413 417