Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

P Sarda; G Lefort; S Taviaux; C Humeau; D Rieu

doi:10.1111/j.1399-0004.1992.tb03623.x

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

Clin Genet. 1992 Jan;41(1):25-7. doi: 10.1111/j.1399-0004.1992.tb03623.x.

Authors

P Sarda¹, G Lefort, S Taviaux, C Humeau, D Rieu

Affiliation

¹ Department of Pediatrics and Medical Genetics, University of Montpelier, Hôpital Saint Charles, France.

PMID: 1633642
DOI: 10.1111/j.1399-0004.1992.tb03623.x

Abstract

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Aberrations / genetics*
Chromosome Aberrations / pathology
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 1 / ultrastructure*
Female
Heart Septal Defects / genetics
Humans
Hypertelorism / genetics
Infant, Newborn
Joints / abnormalities
Microcephaly / genetics
Palate / abnormalities
Phenotype