Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation.
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.
Tsien
Fern
F
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.
Morava
Eva
E
Talarski
Aimee
A
Marble
Michael
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019465:Craniofacial Abnormalities; D002658:Developmental Disabilities / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy