Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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SOUTH AMERICAN
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Family Member
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1
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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,X,t(X;11)(q11.1;p13).arr 11p12p11.2(43125216-46707101)x1
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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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 |
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Chromosome X: TRANSLOCATION Breakpoint Xq11 |
| Remarks |
South American; normal X is late replicating;global retardation (GQ = 60); with bizarre dysmorphology syndrome including epicanthus, hypertelorism, oblique palpebral fissures, trigonocephaly and micrognathia; at 5 years of age her GQ corresponded to that of a girl of almost 3 years old; she has a good memory and when she wishes she can feed herself; she got control of her sphincters both day and night by age 3 and a half; her vocabulary is progressing well; she is shy and easily frightened; she is clumsy with hands and legs; she presents 3 dental carries; her principal problem is the lack of concentration; see GM02859A Fibroblast |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF, Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies American journal of human genetics91:56-72 2011 |
| PubMed ID: 22770980 |
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| Watkins PC, Eddy R, Fukushima Y, Byers MG, Cohen EH, Dackowski WR, Wydro RM, Shows TB, The gene for protein S maps near the centromere of human chromosome 3. Blood71:238-41 1988 |
| PubMed ID: 2961379 |
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| Gunning P, Ponte P, Kedes L, Eddy R, Shows T, Chromosomal location of the co-expressed human skeletal and cardiac actin genes. Proc Natl Acad Sci U S A81:1813-7 1984 |
| PubMed ID: 6584914 |
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