Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation

Fern Tsien; Eva Morava; Aimee Talarski; Michael Marble

Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation

Clin Dysmorphol. 2005 Oct;14(4):177-181.

Authors

Fern Tsien¹, Eva Morava, Aimee Talarski, Michael Marble

Affiliation

¹ Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA, USA Department of Pediatrics, UMC Nijmegen, The Netherlands Louisiana State University Health Sciences Center and Children's Hospital of New Orleans, Department of Pediatrics, Division of Clinical Genetics, New Orleans, LA, USA.

PMID: 16155418

Abstract

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 16 / genetics*
Chromosomes, Human, Y / genetics*
Craniofacial Abnormalities
Developmental Disabilities / pathology
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Phenotype
Translocation, Genetic*
Trisomy*