-transparent.png){kind=logo}
A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas showed a reddish spot surrounded by a broad, greyish retinal zone. Cytogenetic studies disclosed deletion of q22 to the terminal of chromosome 7 and partial trisomy of q31 to the terminal of chromosome 5. Because all reported patients with 5q trisomy have not had Leber's congenital amaurosis, the ocular abnormalities noted in our patient may be explained by the 7q monosomy.
Related Publications
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
August 1985,
Clinical genetics,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
February 2009,
American journal of medical genetics. Part A,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
August 1992,
Journal of medical genetics,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
December 2001,
American journal of medical genetics,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
May 2011,
Indian pediatrics,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
December 2003,
Prenatal diagnosis,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
August 1993,
Acta paediatrica Japonica : Overseas edition,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
March 1975,
Annales de genetique,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
January 1977,
Clinical genetics,
S Hara, and
T Yamada, and
H Nakai, and
A Ohtani, and
K Mizuno
December 1973,
Annales de genetique,
