Distal 15q trisomy: phenotypic comparison of nine cases in an extended family

Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). The physical characteristics, especially the facial features, of these nine cases are similar and distinctive. These include: facial asymmetry, down-slanting palpeb...

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Bibliographic Details
Published in:American journal of human genetics 1984-03, Vol.36 (2), p.444-451
Main Authors: SCHNATTERLY, P, BONO, K. L, ROBINOW, M, WYANDT, H. E, KARDON, N, KELLY, T. E
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Child
Chromosome aberrations
Chromosomes, Human, 13-15
Chromosomes, Human, 6-12 and X
Female
Heterozygote
Humans
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Pedigree
Phenotype
Syndrome
Translocation, Genetic
Trisomy
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Summary:Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). The physical characteristics, especially the facial features, of these nine cases are similar and distinctive. These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks, and micrognathia. By comparing related individuals with the same translocation, the variability due to different breakpoints can be eliminated. Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. We conclude that distal 15q trisomy produces a clinically recognizable syndrome.
ISSN:0002-9297
1537-6605