Description:
DUPLICATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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SCOTTISH/IRISH
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,dup(5)(q13.3q21).arr[hg19] 5q13.3q21.1(76776368-99524109)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 2 weeks; pregnancy history includes: oligohydramnios and breech presentation/delivery; hospitalized with respiratory syncytial virus pneumonia and respiratory failure at 6 weeks of age, episode of metabolic alkalosis with hypophosphatemia during this hospitalization that spontaneously resolved; hypotonia (improved with PT/OT); microcephaly (32 cm, < 3rd percentile at birth, <10th percentile at 3 months, 3-4 SD below the mean at age 17); short stature; small for age (<5th percentile for weight and height at 3 months, 3-4 SD below the mean at age 17); high palate; small mouth; crowded teeth; thin lips; prominent nasal bridge; mild intermittent esotrophia; prominent eyes with bilateral epicanthal folds; palpebral fissures 2 cm bilaterally; borderline low set ears; superior helixes are squared and somewhat overturned; very slight pectus excavatum; hypoplastic toenails; 36 degree scoliosis; congenital hip subluxation; mild hip dysplasia; fine motor delay and gross motor delay (improved with PT/OT); severe mental retardation; does not communicate well orally; uses only a few words that are not understood by strangers; large receptive vocabulary, communicates by showing; not potty trained; sleep disturbance; medications include Reglan and Proventil; treatments include physical and occupational therapies; unaffected parents are GM24365(Lymph) and GM24367(Lymph). |
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