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GM02626 male affected Derivative chromosome sample

Identifiers
BioSample: SAMN00807940; Coriell: GM02626; Coriell: NA02626
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 lineGM02626
sexMale
cell typeFibroblast
family id234
family rolesecond cousin
raceCaucasian
karyotype46;XX;46;XX.ish der(X)t(X;Y)(p22.3;p11.3)(SRY+;DXZ1+).arr Yp11.31p11.2(2710425-5680476)x1;46;XX.ish der(X)t(X;Y)(Xqter>Xp22.3::Yp11.3>Ypter)(SRY+;DXZ1+)
age23 YR
DNA-IDNA02626
affected_byDerivative chromosome
collectionNIGMS Human Genetic Cell Repository
Tags
Derivative chromosome
Translocated chromosome
Xx male syndrome
Description

46;XX;bilateral mild gynecomastia;average IQ;phenotypically male;DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus

Submission
Coriell; 2012-03-05
Accession:
SAMN00807940
ID:
807940

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