Abstract |
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 approximately 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.
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Authors | K S Reddy |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 18
Issue 3
Pg. 294-7
(Mar 1998)
ISSN: 0197-3851 [Print] England |
PMID | 9556048
(Publication Type: Case Reports, Comparative Study, Journal Article)
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Topics |
- Adult
- Amniocentesis
- Amniotic Fluid
(cytology)
- Chromosome Aberrations
(embryology, genetics)
- Chromosome Disorders
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Male
- Pregnancy
- Pregnancy Outcome
- Translocation, Genetic
(genetics)
- Y Chromosome
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