Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases

American Journal of Medical Genetics

Volumn 43, Issue 3, 1992, Pages 535-538

  Chudley, A E ^a   Kovnats, S ^a   Ray, M ^a  

^a CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

Author keywords

18q deletion; chromosome abnormalities; mental retardation

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME BANDING PATTERN; CLINICAL FEATURE; HETEROZYGOTE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; PARENTAL AGE; PARTIAL MONOSOMY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SOMATOTYPE; SURVIVAL TIME;

EID: 0026710963     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320430307     Document Type: Article

References (14)

1. Chudley AE, Bauer R, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL (1974) Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet II: 353–366.
2. de Grouchy J, Royer P, Salmon C, Lamy M (1964) Délétion partielle des bras long du chromosome 18. Path Biol 12: 579–582.
3. Faulkner KW, Holmes LB, Steinfeld A, Abroms IF (1983) A child with 18q‐syndrome and cerebellar astrocytoma. J Pediatr 103: 600–602.
4. Fearon ER, Cho KR, Nigro JM, Kern SE, Simons JW, Ruppert JM, Hamilton SR, Preisinger AC, Thomas G, Kinzler KW, Vogelstein B (1990) Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247: 49–56.
5. Gilbert EF, Opitz JM (1982) Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Persp Pediatr Path 7: 1–63.
6. Halliday WC, Chudley AE (1989) 18q‐ syndrome: Neurofibrillary tangles without neuritic plaques. J Neuropath Exp Neurol 48: 308 (A23).
7. Krasikov N, Thompson K, Singh S (1992) Short clinical report: Monosomy 18q12.1→21.1: a recognizable chromosomal syndrome? Report of a case and review of the literature. Am J Med Genet (this issue).
8. Lurie IW, Lazjuk GI (1972) Partial monosomies 18. Review of cytogenetical and phenotypical variants. Humangenet 15: 203–222.
9. Machin Valtueña M, Garcia‐Sagredo JM, Villa A Muñoz, Lozano Giménez C, Aparicio Meix JM (1987) 18q‐ syndrome and extraskeletal Ewing's sarcoma. J Med Genet 23: 426–428.
10. Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H (1991) Interstitial deletion of the long arm of chromosome 18, del(18) (q12.2q21.1): A report of three cases of autosomal deletion with a mild phenotype. J Med Genet 28: 352–355.
11. Reed T (1991) Hypothesis: Association of the critical region of trisomy 18 and 18q2‐syndrome with dermatoglyphic findings and a growth suppressor (deleted in colon cancer) locus. Clin Genet 39: 391–395.
12. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smitts AMM, Bos J (1988) Genetic alterations during clorectal tumor development. N Engl J Med 319: 525–532.
13. Wilson GN, Al Saadi A (1989) Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1). J Med Genet 26: 62–63.
14. Wilson MG, Towner JW, Forsman I, Siris E (1979) Syndromes associated with deletion of long arm of chromosome 18 [del(18q)]. Am J Med Genet 3: 155–174.