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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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 before cell line submission to CCR
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ISCN
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46,XX,del(11)(p11.2p11.2).arr 11p11.2(43753196-48250507)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 |
| |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: Potocki-Shaffer Syndrome |
| (Baseline) |
| Inheritance |
| Parental origin of del(11) |
Unknown |
| Skull |
| Parietal foramen |
Yes |
| Brachycephaly |
Yes |
| Turricephaly |
Unknown |
| Craniofacial dysostosis |
Unknown |
| Microcephaly |
Yes |
| Large fontanel |
Yes |
| Facial |
| Aniridia |
No |
| Sparse lateral eyebrows |
Yes |
| Epicanthal folds |
Yes |
| Prominent nasal bridge |
Yes |
| Prominent nose |
Yes |
| Short philtrum |
Yes |
| Downturned mouth |
Yes |
| Protuberant ears |
Unknown |
| Skeletal |
| Short stature |
No |
| Multiple exostoses |
Yes |
| If yes, give age at detection in years |
4 |
| Scoliosis |
Yes |
| Osteochondroma |
Unknown |
| Limbs |
| Cutaneous syndactyly between fingers 2 and 5 |
Unknown |
| Brachydactyly |
Yes |
| Neurological |
| Developmental delay/mental retardation |
Yes |
| Central nervous system malformation |
No |
| Corpus callosum |
Normal |
| Sensorineural hearing loss |
No |
| Genitourinary |
| Hypospadias |
Not Applicable |
| Cryptorchidism |
Not Applicable |
| Micropenis |
Not Applicable |
| Renal malformation |
Unknown |
| Wilms tumor |
Unknown |
| Remarks |
Clinically affected; daughter of GM22623; parietal foramen; brachycephaly; microcephaly; large fontanel; sparse lateral eyebrows; epicanthal folds; prominent nasal bridge; prominent nose; short philtrum; downturned mouth; multiple exostoses, detected at 4 years old; scoliosis; brachydactyly; developmental delay/mental retardation; same subject as GM11970 |
| 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 |
| |
| Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA, Gene for multiple exostoses (EXT2) maps to 11(p112p12) and is deleted in patients with a contiguous gene syndrome American journal of medical genetics75:538-40 1998 |
| PubMed ID: 9489802 |
| |
| Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ, Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 American journal of human genetics58:734-42 1996 |
| PubMed ID: 8644736 |
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| Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F, Familial interstitial deletion 11(p1112p12) associated with parietal foramina, brachymicrocephaly, and mental retardation American journal of medical genetics45:581-3 1993 |
| PubMed ID: 8456828 |
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