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Clinical management of a rare de novo translocation 46,X,t(Y;15) (p11.2∼11.3;q11.2).ish t(Y;15)(DYZ3+,AMELY+,SNRPN+;D15Z+) found prenatally
Author(s) -
Reddy K. S.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199803)18:3<294::aid-pd247>3.0.co;2-x
Subject(s) - derivative chromosome , uniparental disomy , chromosomal translocation , fluorescence in situ hybridization , microbiology and biotechnology , biology , karyotype , chromosome 15 , y chromosome , marker chromosome , centromere , genetics , amniocentesis , chromosome , prenatal diagnosis , fetus , pregnancy , gene
A 40‐year‐old woman had amniocentesis at 16 weeks' gestation. Chromosome studies based on 15 colonies showed a de novo 46,X,t(Y;15)(p11.2∼11.3;q11.2) karyotype. Using C‐ and Q‐banding, the additional material on 15 appeared to be Yqh heterochromatin. The satellite on the small derivative chromosome was positive by AgNOR staining. Fluorescence in situ hybridization (FISH) studies using Y and 15 alpha satellite centromeric probes (DYZ3 and D15Z) showed that the derivative chromosome that resembled 15p+ had a Y centromere and that the satellited derivative had a 15 centromere. The break on Y was distal to the amelogenin locus and on 15 it was shown to be proximal to the Prader–Willi/Angelman region by using the SNRPN probe. DNA studies ruled out uniparental disomy of chromosome 15 and a SRY deletion. The pregnancy was continued and a normal baby boy without any discernible abnormalities was born.