Potocki-Lupski syndrome - MedlinePlus
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is …
Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf
2017年8月24日 · Potocki-Lupski syndrome (PTLS) is characterized by developmental delay, intellectual disability, behavioral disturbances, organ system involvement, and mildly dysmorphic facial features [Potocki et al 2007, Treadwell-Deering et al 2010].
Potocki-Lupski Syndrome Characteristics
The following is a list of characteristics observed in the Lupski research lab, mouse model lab and parent observations. Not all children present with the same symptoms (phenotypes), and the severity varies.
Potocki–Lupski syndrome - Wikipedia
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). [1]
PTLS Info – Potocki-Lupski Syndrome Foundation
Genetically speaking, Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2).
Potocki-Lupski syndrome is a condition that results from having an extra copy ( duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is …
FDNA™Potocki-Lupski Syndrome: Symptoms, Causes and …
What is Potocki-Lupski syndrome (PTLS)? Potocki-Lupski is a rare, recently identified genetic condition that can be difficult to diagnose based on routine chromosome analysis alone, as it is often missed with standard testing.
Potocki-Lupski syndrome (Concept Id: C2931246) - National …
Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability.
Potocki-Lupski syndrome - NIH Genetic Testing Registry (GTR)
Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability.
Potocki-Lupski Syndrome - SpringerLink
2024年4月23日 · Potocki-Lupski syndrome (PTLS) is a rare neurodevelopmental disorder that occurs by heterozygous de novo microduplication in the short arm of chromosome 17, at p11.2 position (Fig. 1). It may be present in different levels of clinical expressivities ranging from mild...
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