U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GM10272 male affected Aniridia: types 1 or 2 - 106200 or 106210 sample

Identifiers
BioSample: SAMN00799875; Coriell: GM10272
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM10272
sexMale
cell typeB-Lymphocyte
family id1178
family rolehalf-brother
raceCaucasian
karyotype46;XY;t(11;22)(11qter>11p13::22q11.2 or 12.2>22qter;22pter>22q11.2 or 12.2:: 11p13>11pter)pat
affected_byAniridia: types 1 or 2 - 106200 or 106210
collectionNIGMS Human Genetic Cell Repository
Tags
Translocated chromosome
Aniridia: types 1 or 2 - 106200 or 106210
Description

Clinically affected;aniridia;cataracts;hyperopia;and nystagmus first noted at 3 months of age;at age 12 years there was pendular nystagmus;bilateral total aniridia;bilateral posterior subcapsular cataractous changes;and absent foveae;normal ocular pressure;visual acuity 20/400 corrected;no genitourinary tract abnormalities;IQ=67;familial chromosome translocation;father (GM10274);paternal half-sister (GM10273);and paternal grandmother also affected with aniridia and familial chromosome translocation;seven family members in 4 generations affected with aniridia but karyotype unknown.

Submission
Coriell; 2012-03-05
Accession:
SAMN00799875
ID:
799875

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center