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GM01416 female unaffected Aneuploid chromosome number - non-trisomic sample

Identifiers
BioSample: SAMN00803874; Coriell: GM01416; Coriell: NA01416
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 lineGM01416
sexFemale
cell typeB-Lymphocyte
family id370
family roleproband
raceCaucasian
karyotype48;XXXX;48;XXXX.arr Xp22.33q28(108464-154835536)x4;48;XXXX.rev ish enh(X)
age27 YR
DNA-IDNA01416
collectionNIGMS Human Genetic Cell Repository
Tags
Copy number variation (cnv) reference panel
Xxxx syndrome
Aneuploid chromosome number - non-trisomic
Description

Developmental delay;moderate retardation;delayed language development;abnormal dermatoglyphics;bilateral epicanthal folds;small mandible;bilateral dermato-lipomas;lens opacities;high arched palate;mildly hypotonic;normal menses;see GM01415E Fibroblast.

Submission
Coriell; 2012-03-05
Accession:
SAMN00803874
ID:
803874

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