Large interstitial deletion of chromosome 13q and severe short stature: Clinical report and review of the literature

Clinical Dysmorphology

Volumn 12, Issue 3, 2003, Pages 195-196

  Slavotinek, Anne M ^a,c   Lacbawan, Felicitas ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Interstitial deletion of chromosome 13; Severe short stature

Indexed keywords

ADOLESCENT; ARTICLE; BODY HEIGHT; CASE REPORT; CHROMOSOME 13; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CHROMOSOME STRUCTURE; CLINICAL FEATURE; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GENETICS; GROWTH RETARDATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; KARYOTYPE 46,XX; MENTAL DEFICIENCY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHORT STATURE; SURVIVAL TIME;

EID: 0041365937     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00010     Document Type: Article

References (6)

1. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. (1993). Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
2. Brown S, Russo J, Chitayat D, Warburton D (1995). The 13q- syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
3. Ikeuchi T, Sonta S, Sasaki M, Hujita M, Tsunematsu K (1974). Chromosome banding patterns in an infant with 13q- syndrome. Humangenetik 21:309-314.
4. Tranebjaerg L, Brondum Nielsen K, Tommerup N, Warburg M, Mikkelsen M (1988). Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet 29:739-753.
5. Van Buggenhout G, Trommelen J, Hamel B, Fryns JP (1999). 13q deletion syndrome in an adult mentally retarded patient. Genet Counsel 10:177-181.
6. Walsh LE, Vance GH, Weaver DD (2001). Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet 98:137-144.