Description:
GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XYY.ish Y(SRYx2, DYZ1x2)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome Y: ANEUPLOID Aneuploid Segment (+)Ypter>Yqter |
| Remarks |
Clinically affected; Marfanoid habitus; height is 7 ft 4 in; malar hypoplasia; dolicocephaly; dysplastic pinna; overbite; micrognathia; high palate; deviated uvula; absent gag reflex; small mouth with trouble opening; mild cataracts in right eye; abnormal chest wall; downsloping ribs; pectus excavatum; hernias; grade 2/6 systolic murmur; diminished right and left dorsalic pedis and posterior tibial; cyanosis in toes and feet; varicosities; edema; extremely dry skin with red lesions; scoliosis; pes planus; genu valga; Beighton score 0/9; headaches; sleep disturbed by itching; asthma; chest pain fixed with surgery; heart burn; acute angulation of midcervical spine with reversal of normal cervical lordosis; degenerative disc disease at L4-S1; disc space with mild broad based posterior protrusion; mild to moderate facet changes with some foraminal narrowing; moderate osteoarthritis of the lumbar facets; negative for FBN1 mutations by direct sequencing, deletion not ruled out; see GM22122 Fibroblast |
| View |
FISH Spectrum Green = DYZ1, DXZ1 ; Spectrum Orange = SRY |
|
FISH Spectrum Green = DYZ1, DXZ1 ; Spectrum Orange = SRY |
|
karyotype Spectrum Green = DYZ1, DXZ1 ; Spectrum Orange = SRY |
|
|