Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.
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.
Sarda
P
P
Department of Pediatrics and Medical Genetics, University of Montpelier, Hôpital Saint Charles, France.
Lefort
G
G
Taviaux
S
S
Humeau
C
C
Rieu
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities; D008831:Microcephaly / Q000235:genetics; D010159:Palate / Q000002:abnormalities; D010641:Phenotype