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Humangenetik. 1975 Jun 19;28(2):93-6.

Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

Abstract

In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.

PMID:
1150275
[PubMed - indexed for MEDLINE]
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