Avtor/Urednik		Kokalj-Vokač, Nadja; Medica, Igor; Zagorac, Andreja; Zagradišnik, Boris; Erjavec, Alenka; Gregorič, Alojz
Naslov		A case of insertional translocation resulting in partial trisomy 16p
Tip		članek
Vir		Ann Genet
Vol. in št.		Letnik 43, št. 3-4
Leto izdaje		2000
Obseg		str. 131-5
Jezik		eng
Abstrakt		This report concerns the case of a boy with 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;p13.1pl13.3), 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 insertion translocation.
Deskriptorji		TRISOMY CHROMOSOMES, HUMAN, PAIR 16 CHILD TRANSLOCATION (GENETICS) KARYOTYPING IN SITU HYBRIDIZATION, FLUORESCENCE