Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1981;56(3):263-8.
doi: 10.1007/BF00274676.

Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)

A Schinzel
Case Reports

Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)

A Schinzel. Hum Genet. 1981.

Abstract

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intrauterine 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 leads to qter.

PubMed Disclaimer

References

    1. Hum Genet. 1981;57(2):148-58 - PubMed
    1. Arch Genet (Zur). 1976-1977;49-50(2-3):134-66 - PubMed
    1. Hum Genet. 1981;56(3):249-62 - PubMed
    1. Hum Genet. 1981;56(3):269-73 - PubMed
    1. Am J Med Genet. 1977;1(1):3-19 - PubMed

Publication types