NA01252
DNA from Fibroblast
Description:
INVERTED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
Black/African American
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,inv(3)(pter>p25::q25>p25::q25> qter),inv(9)(pter>p11::q1?>p11::q1?>qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 3: INVERSION Breakpoint 3p25 inv(3)3p25 |
|
Chromosome 3: INVERSION Breakpoint 3q25 inv(3)3q25 |
|
Chromosome 9: INVERSION Breakpoint 9p11 inv(9)9p11 |
|
Chromosome 9: INVERSION Breakpoint 9q10 inv(9)9q10 |
Remarks |
Phenotypically normal; sons are GM01251 and GM01253 Fibroblast |
Pope IS, Thuline HC, Aronson MM, Bozarth B, Greene AE, Coriell LL, Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Repository identification Nos. GM-1253, GM-1252, and GM-1251. Cytogenet Cell Genet24:127-8 1979 |
PubMed ID: 477407 |
|
|