GM24264
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP |
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Cell Type
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B-Lymphocyte
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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Country of Origin
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USA
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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 before cell line submission to CCR
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ISCN
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46,XX,t(1;3)(q32.1;q25.2).arr[hg19](1-22,X)x2
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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 |
Affected subject carries a de novo, apparently balanced rearrangement; macrocephaly- head circumference >95th percentile; weight >95th percentile; height 95th percentile; single telangiectastic lesion (3x1.5cm) across right flank; mild bilateral 2-3 syndactyly of the toes; deep tendon reflexes slightly brisk; seizures; cerebral atrophy-MRI showed diffuse atrophy especially of the frontal and parietal lobes with mild cerebellar and vermian atrophy); significant developmental delay (at 8.5 years functions at a preschool level,WISC III scores were 58, 57 and 64 for full scale, verbal, and performance IQ); weak areas include: logic, analysis, planning, sequencing and abstract thinking; bone age appropriate for chronological age; plasma amino acids, urine organic acids, liver enzymes, cholesterol, 7-dehydrocholesterol, uric acid, and molecular analysis for Fragile X syndrome were all normal; family history: mother had 2 pregnancy losses and 1 healthy son, mother had enlarged occipital frontal circumference of 58cm (+2SD) and mild bilateral 2-3 syndactyly of the toes; maternal grandmother and great aunts had a history of learning difficulties and childhood seizures. |
| Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2023 |
| PubMed ID: 37020281 |
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| Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project American journal of human genetics82:712-22 2007 |
| PubMed ID: 18319076 |
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| Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH, Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities American journal of medical genetics Part A143:558-63 2007 |
| PubMed ID: 17304550 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Supplement |
- |
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