Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)
Journal Article
·
· American Journal of Medical Genetics
- Kanagawa Children`s Medical Center, Yokohama (Japan); and others
We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. 15 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443761
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Miller-Dieker syndrome associated with duplication of 17p13.3 confirmed by fluorescence in situ hybridization (FISH)
A case of duplication 17p13.1p13.3 confirmed by FISH
Omphalocele in Miller-Dieker syndrome: Expanding the phenotype
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133710
A case of duplication 17p13.1p13.3 confirmed by FISH
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134616
Omphalocele in Miller-Dieker syndrome: Expanding the phenotype
Journal Article
·
Sun Mar 30 23:00:00 EST 1997
· American Journal of Medical Genetics
·
OSTI ID:526003