Partial trisomy 22: A recognizable syndrome | Zendy

Garlinger Patricia | Zendy; McGeary Scott A. | Zendy; Magenis Ellen | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Partial trisomy 22: A recognizable syndrome

Author(s) -

Garlinger Patricia,

McGeary Scott A.,

Magenis Ellen

Publication year - 1977

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/j.1399-0004.1977.tb00895.x

Subject(s) - aunt , chromosomal translocation , trisomy , partial trisomy , palpebral fissure , genetics , heart disease , medicine , karyotype , biology , anatomy , chromosome , sociology , anthropology , gene

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti‐mongoloid slant of the palpebral fissures, preauricular skin tags and low‐set ears.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research