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Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment. Clin Genet 1987 Jun;31(6):381-5

Date

06/01/1987

Pubmed ID

3621640

DOI

10.1111/j.1399-0004.1987.tb02828.x

Scopus ID

2-s2.0-0023236084 (requires institutional sign-in at Scopus site)   10 Citations

Abstract

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.

Author List

Ardinger HH, Patil SR, Rhead WJ

Author

William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 2
Female
Humans
Karyotyping
Monosomy
Pedigree
Translocation, Genetic
Trisomy