Incomplete trisomy 22
- 1 February 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 56 (3) , 263-268
- https://doi.org/10.1007/bf00274676
Abstract
Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intraurine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13→qter.This publication has 5 references indexed in Scilit:
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- Incomplete trisomy 22Human Genetics, 1981
- Incomplete trisomy 22Human Genetics, 1981
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