Description:
POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
Heritable Diseases
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XY,del(11)(p12p11.2),+15[12]/46,XY,del(11)(p12p11.2)[40].arr 11p12p11.12(41392049-49104319)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment -(11p11>11p12) |
|
Chromosome 15: ANEUPLOID Aneuploid Segment +(15p13>15q26) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 MO |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Potocki-Shaffer Syndrome |
| (Baseline) |
| Inheritance |
| Parental origin of del(11) |
Maternal |
| Skull |
| Parietal foramen |
Yes |
| Brachycephaly |
Yes |
| Turricephaly |
Unknown |
| Craniofacial dysostosis |
Unknown |
| Microcephaly |
No |
| Large fontanel |
No |
| Facial |
| Aniridia |
No |
| Sparse lateral eyebrows |
No |
| Epicanthal folds |
No |
| Prominent nasal bridge |
No |
| Prominent nose |
No |
| Short philtrum |
No |
| Downturned mouth |
Yes |
| Protuberant ears |
No |
| Skeletal |
| Short stature |
No |
| Multiple exostoses |
No |
| If yes, give age at detection in years |
No Data |
| Scoliosis |
No |
| Osteochondroma |
No |
| Limbs |
| Cutaneous syndactyly between fingers 2 and 5 |
Unknown |
| Brachydactyly |
Unknown |
| Neurological |
| Developmental delay/mental retardation |
Yes |
| Central nervous system malformation |
Yes |
| Corpus callosum |
Thin |
| Sensorineural hearing loss |
No |
| Genitourinary |
| Hypospadias |
Unknown |
| Cryptorchidism |
No |
| Micropenis |
Yes |
| Renal malformation |
Unknown |
| Wilms tumor |
No |
| Remarks |
Clinically affected; son of GM22629; parietal foramen; brachycephaly; downturned mouth; developmental delay/mental retardation; central nervous system malformation; thin corpus callosum; micropenis |
| 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 |
| |
| Chien WH, Sue WC, Kuo PL, Su MH, Lin CL, Potocki-Shaffer syndrome: report of one case Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi44:242-5 2003 |
| PubMed ID: 14674231 |
|
|