Description:
POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases
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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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,XY.arr 11p11.2(43726534-44909506)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 LINE assay |
| |
| Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p11>11p12 |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Potocki-Shaffer Syndrome |
| (Baseline) |
| Inheritance |
| Parental origin of del(11) |
Maternal |
| Skull |
| Parietal foramen |
Yes |
| Brachycephaly |
Unknown |
| Turricephaly |
Unknown |
| Craniofacial dysostosis |
Unknown |
| Microcephaly |
Unknown |
| Large fontanel |
Unknown |
| Facial |
| Aniridia |
Unknown |
| Sparse lateral eyebrows |
Unknown |
| Epicanthal folds |
Unknown |
| Prominent nasal bridge |
Unknown |
| Prominent nose |
Unknown |
| Short philtrum |
Unknown |
| Downturned mouth |
Unknown |
| Protuberant ears |
Yes |
| Skeletal |
| Short stature |
Unknown |
| Multiple exostoses |
Yes |
| If yes, give age at detection in years |
No Data |
| Scoliosis |
Unknown |
| Osteochondroma |
Unknown |
| Limbs |
| Cutaneous syndactyly between fingers 2 and 5 |
Unknown |
| Brachydactyly |
Unknown |
| Neurological |
| Developmental delay/mental retardation |
No |
| Central nervous system malformation |
Unknown |
| Corpus callosum |
Unknown |
| Sensorineural hearing loss |
Unknown |
| Genitourinary |
| Hypospadias |
Unknown |
| Cryptorchidism |
Unknown |
| Micropenis |
Unknown |
| Renal malformation |
Unknown |
| Wilms tumor |
Unknown |
| Remarks |
Clinically affected; two affected children; multiple exostoses; mother, maternal grandmother and maternal great grandfather with multiple exostoses |
| 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 |
| |
| Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005 |
| PubMed ID: 15852040 |
| |
| Hall CR, Wu Y, Shaffer LG, Hecht JT, Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4 Clinical genetics60:356-9 2002 |
| PubMed ID: 11903336 |
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