Description:
POTOCKI-LUPSKI SYNDROME; PTLS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
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
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Italian
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XX[25].arr 17p11.2(16,709,534-
18,319,850)x3, 17p11.2(18,474,633-18,922,733)x4
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; onset of symptoms at 2 days old; diagnosed at 3 years of age by geneticist; hypotonia; ataxia; dysmorphic facial features; micrognathia; extropia; history of ventricular septal defect (VSD) (closed after 1 month); constipation; failure to thrive; fine motor delay; gross motor delay; speech delay; intellectual disability; learning disability; sleep disturbance; mother is GM25590 and father is GM25591. |
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