Partial trisomy of the short arm of chromosome 3 (3p25 to 3pter). A distinct clinical entity

Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy r...

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Bibliographic Details
Published in:Human genetics 1979-01, Vol.47 (3), p.239-244
Main Authors: Parloir, C, Fryns, J P, Van den Berghe, H
Format: Article
Language:English
Subjects:
Adult
Child
Chromosomes, Human, 1-3
Face - abnormalities
Humans
Intellectual Disability - genetics
Karyotyping
Male
Syndrome
Translocation, Genetic
Trisomy
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Description
Summary:Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00321015