Case Reports
doi: 10.1136/jmg.18.1.71.
Monosomy 22 with mosaicism
- PMID: 7253004
- PMCID: PMC1048664
- DOI: 10.1136/jmg.18.1.71
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Case Reports
Monosomy 22 with mosaicism
J Med Genet.
1981 Feb.
Abstract
A 2-year-old male child with mosaicism for monosomy of chromosome 22 is described. He had moderate psychomotor retardation, generalised hypotonia, large ears, epicanthus, synophrys, and cutaneous syndactyly between all the fingers.
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