A case of insertional translocation resulting in partial trisomy 16p.
This report concerns the case of a boy with partial trisomy 16p resulting from the insertional translocation of the short arm of chromosome 16 into the long arm of chromosome 1 in his father. He was referred for genetic testing because of mental retardation, short stature, microcephaly, seizures and multiple dysmorphic features. Chromosome analysis performed in the child demonstrated the presence of additional material in the long arm of chromosome 1. Paternal high resolution chromosome analysis and fluorescence in situ hybridisation revealed the following karyotype: 46,XY,ins(1;16)(q42;p13.1p13.3), while the karyotype of the boy is 46,XY,der(1),ins(1;16)(q42;p13.1p13.3)pat. This is the first reported case of partial trisomy 16p due to paternal insertional translocation.
Kokalj-Vokac
N
N
Laboratory for Medical Genetics, Gynecology and Perinatology Clinic, Maribor Teaching Hospital, Ljubljanska 5, 2000 Maribor, Slovenia. nadja.kokalj-vokac@sb-mb.si
Medica
I
I
Zagorac
A
A
Zagradisnik
B
B
Erjavec
A
A
Gregoric
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D004251:DNA Transposable Elements; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D014314:Trisomy
D004251:DNA Transposable Elements