Case Reports
doi: 10.1007/BF00284599.
X pentasomy: a case and review
- PMID: 527976
- DOI: 10.1007/BF00284599
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Case Reports
X pentasomy: a case and review
Hum Genet.
.
Abstract
A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.
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