An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2

T J de Ravel; G Matthijs; J Fryns

doi:10.1016/s0003-3995(01)01045-0

An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2

Ann Genet. 2001 Apr-Jun;44(2):63-6. doi: 10.1016/s0003-3995(01)01045-0.

Authors

T J de Ravel¹, G Matthijs, J Fryns

Affiliation

¹ Centre for Human Genetics, KULeuven, UZ Gasthuisberg, Herestraat 49, B3000, Leuven, Belgium.

PMID: 11522242
DOI: 10.1016/s0003-3995(01)01045-0

Abstract

We report a patient with a 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 karyotype, in whom the rarely seen adjacent-2 segregation (according to the predicted pachytene diagram model) as well as two cross-overs, resulted in maternal isodisomy 18pter-->18q12.2.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Centromere / genetics
Child, Preschool
Chromosomes, Human, Pair 18 / genetics*
Chromosomes, Human, Pair 21 / genetics*
Crossing Over, Genetic / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Karyotyping
Male
Phenotype
Polymorphism, Genetic / genetics
Translocation, Genetic / genetics*
Uniparental Disomy / genetics*