Features in radiology: the double bubble.
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Duodenal Obstruction↗
Biomedical subjects
S J Horton
Publications and source records attributed to S J Horton.
De novo paracentric inversion in an X chromosome.
A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome.
Bone and Bones↗
De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).
A profoundly retarded, slightly dysmorphic male was re-examined cytogenetically by high resolution GTG banding and found to have a de novo interstitial direct duplication of 15q.
Abnormalities, Multiple↗