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PMID: 2918536 Published · ppublish English Case Reports Journal Article

Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Journal of medical genetics ·Vol. 26 ·No. 2 ·1989-02-00 ·Pages 100-4

Lamont MA, Fitchett M, Dennis NR

Abstract

Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.

MeSH Terms
Abnormalities, Multiple/genetics Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 13 Female Hirschsprung Disease/genetics Humans Infant Karyotyping Male
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Lamont M A
Department of Child Health, Southampton General Hospital.
Fitchett M
Dennis N R
References (9)
9 references, click to expand
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    Hum Genet. 1979;52(3):269-74 PMID: 535887
  6. Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.
    Hum Genet. 1981;56(3):283-6 PMID: 7239512
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    Hum Genet. 1982;61(1):18-23 PMID: 7129419
  8. Interstitial deletion of long arm of chromosome 13.
    Ann Genet. 1984;27(1):49-52 PMID: 6609673
  9. A 13q- syndrome with extensive intestinal atresia.
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.26.2.100
Published
1989-02-00
Pages
100-4
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1015558
Subset
IM
Corrections
CommentIn
PMID: 2614805
External Links
PubMed source DOI: 10.1136/jmg.26.2.100 PMC Full Text View journal details
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