Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

doi:10.1136/jmg.32.8.619

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Article

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

Journal of medical genetics - 1 Aug 1995

Keppler-Noreuil K M, Carroll A J, Finley W H, Rutledge S L

Abstract excerpt

We report three unrelated patients with small terminal deletions involving 1p36.22-->pter that occurred de novo and compare our patients to the 10 previously reported cases. Although our patients have an identical cytogenetic deletion, patients 1 and 2 share similar clinical features that differ...

Topics

Abnormalities, Multiple
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
Follow-Up Studies
Growth Disorders
Humans
Infant
Karyotyping
Phenotype
Time Factors

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