Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27) [6]

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 299-300

  Vermeesch, Joris R ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 6; CHROMOSOME ARM; CHROMOSOME DELETION; FACE ASYMMETRY; FALLOT TETRALOGY; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; LETTER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROPHTHALMIA; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; SYNDROME; TETRALOGY OF FALLOT;

EID: 0041821976     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. 1997. New insights into the phenotypes of 6q deletions. Am J Med Genet 70:377-386.
2. Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M. 1992. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. Am J Med Genet 43:747-750.
3. NIH. 1996. A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine Collaboration. Nat Genet 14:86-89.
4. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin, New York: Walter de Gruyter.
5. Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. 1992. Monosomy 6q: Report on four new cases. Clin Genet 41:159-166.