Potocki-Lupski syndrome
A developmental disorder characterized by HYPOTONIA; FAILURE TO THRIVE; INTELLECTUAL DISABILITY, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array COMPARATIVE GENOMIC HYBRIDIZATION (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion SMITH-MAGENIS SYNDROME. OMIM: 610883
Also Known As:
Chromosome 17, trisomy 17p11 2; Chromosome 17p11.2 Duplication Syndrome; Duplication 17p11 2; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Trisomy 17p11 2
Networked: 11
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Chen, Li:
2 articles
(09/2017 - 01/2016)
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2. | Bao, Jie:
1 article
(01/2021)
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3. | Jun, In-Jung:
1 article
(01/2021)
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4. | Kim, Kye-Min:
1 article
(01/2021)
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5. | Kim, Songhyun:
1 article
(01/2021)
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6. | Li, Junfeng:
1 article
(01/2021)
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7. | Lim, Yunhee:
1 article
(01/2021)
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8. | Yoo, Byunghoon:
1 article
(01/2021)
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9. | Zhang, Di:
1 article
(01/2021)
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10. | Zhou, Shuzhen:
1 article
(01/2021)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Potocki-Lupski syndrome:
Therapies and Procedures