18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male

The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t...

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Bibliographic Details
Published in:Journal of medical genetics 1979-10, Vol.16 (5), p.399-402
Main Authors: Moedjono, S J, Funderburk, S J, Sparkes, R S
Format: Article
Language:English
Subjects:
Adult
Body Height
Chromosome 18
Chromosome deletion
Chromosomes, Human, 13-15
Chromosomes, Human, 16-18
Esotropia - genetics
Humans
Intellectual disabilities
Intellectual Disability - genetics
Karyotypes
Male
Metacarpal
Metacarpus - abnormalities
Neoplasms - genetics
Research Article
Strabismus
Syndrome
Translocation, Genetic
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Summary:The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.16.5.399