Abstract |
This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.
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Authors | S J Funderburk, C T Barrett, I Klisak |
Journal | Annales de genetique
(Ann Genet)
Vol. 21
Issue 4
Pg. 219-22
(Dec 1978)
ISSN: 0003-3995 [Print] Netherlands |
PMID | 314258
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Topics |
- Abnormalities, Multiple
(genetics)
- Brain
(abnormalities)
- Chromosomes, Human, 6-12 and X
- Cleft Palate
(genetics)
- Heart Defects, Congenital
(genetics)
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Translocation, Genetic
- Trisomy
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