Partial trisomy 16q resulting from maternal translocation

P Balestrazzi; G Giovannelli; L Landucci Rubini; B Dallapiccola

doi:10.1007/BF00277648

Partial trisomy 16q resulting from maternal translocation

Hum Genet. 1979 Jun 19;49(2):229-35. doi: 10.1007/BF00277648.

Authors

P Balestrazzi, G Giovannelli, L Landucci Rubini, B Dallapiccola

PMID: 468254
DOI: 10.1007/BF00277648

Abstract

A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosomes, Human, 16-18*
Humans
Intellectual Disability / genetics
Karyotyping
Male
Muscle Hypertonia / genetics
Testicular Hydrocele / congenital
Translocation, Genetic*
Trisomy*