Two cases of interstitial deletion 1p.
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.
Lai
M M
MM
SE Thames Regional Genetic Centre, Guy's Hospital, London.
Robards
M F
MF
Berry
A C
AC
Fear
C N
CN
Hart
C
C
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002878:Chromosomes, Human, Pair 1; D005149:Facial Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007593:Joint Instability / Q000235:genetics; D008297:Male