Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature [2]

American Journal of Medical Genetics

Volumn 134 A, Issue 2, 2005, Pages 226-228

  Eggermann, Katja ^a   Bergmann, Carsten ^a   Heil, Inge ^a   Eggermann, Thomas ^a   Zerres, Klaus ^a   Schüler, Herdit M ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

CASE REPORT; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA DETERMINATION; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GERMANY; HUMAN; HUMAN CELL; KARYOTYPE; LEARNING DISORDER; LETTER; LYMPHOCYTE; NUCLEAR MAGNETIC RESONANCE; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GROWTH DISORDERS; HUMANS; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL;

EID: 15944384251     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30551     Document Type: Letter

References (6)

1. Giebel LB, Spritz RA. 1991. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Nat Acad Sci 88:8696-8699.
2. Mascari MJ, Mowrey PN, Ramer JC, Ladda RL. 1989. Severe mental retardation and mild dysmorphism: Association with an uncommon interstitial deletion of chromosome 4. Am H Hum Genet 45S:A82.
3. McDemort A, Cain R, Howell R. 1980. Partial monosomy of long arm of chromosome due to interstitial deletion. Hum Genet 53:305-307.
4. Nowaczyk MJM, Teshima IE, Siegel-Bartelt J, Clarke JTR 1997 Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am J Med Genet 69:400-405.
5. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin/New York: De Gruyter.
6. Strehle EM, Ahmed OA, Hameed M, Russell A. 2001. The 4q - syndrome. Genet Counsel 12:327-339.