Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis
Journal Article
·
· American Journal of Human Genetics
OSTI ID:134614
- Univ. of Colorado School of Medicine, Denver (United States); and others
A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.
- OSTI ID:
- 134614
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Supernumerary inv dup (15) in a patient with Angelman syndome and a deletion of 15q11-q13
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: Is there a role for the P gene?
Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region
Journal Article
·
Mon May 22 00:00:00 EDT 1995
· American Journal of Medical Genetics
·
OSTI ID:99093
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: Is there a role for the P gene?
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133738
Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region
Journal Article
·
Sun Jan 01 23:00:00 EST 1995
· American Journal of Medical Genetics
·
OSTI ID:91107