17p11.2 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PTLS
Trisomy 17p11.2
Potocki-Lupski syndrome
CHROMOSOME 17p11.2 DUPLICATION SYNDROME
Number of Symptoms 76
OrphanetNr: 1713
OMIM Id: 610883
ICD-10: Q92.3
UMLs: C2931246
MeSH: C536578
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the short arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012210) Abnormal renal morphology 17357070 IBIS 18 / 7739
2
 (HPO:0000337) Broad forehead Frequent [Orphanet] 17357070 IBIS 116 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000678) Dental crowding 65 / 7739
5
 (HPO:0000325) Triangular face Frequent [Orphanet] 17357070 IBIS 91 / 7739
6
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 17357070 IBIS 644 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 17357070 IBIS 328 / 7739
8
 (HPO:0000303) Mandibular prognathia 17357070 IBIS 179 / 7739
9
 (HPO:0000252) Microcephaly Occasional [Orphanet] 17357070 IBIS 832 / 7739
10
 (HPO:0000243) Trigonocephaly 40 / 7739
11
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
12
 (HPO:0200136) Oral-pharyngeal dysphagia 1 / 7739
13
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
14
 (HPO:0000319) Smooth philtrum 72 / 7739
15
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
16
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
17
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
18
 (HPO:0000347) Micrognathia 17357070 IBIS 426 / 7739
19
 (HPO:0005274) Prominent nasal tip 17357070 IBIS 6 / 7739
20
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 17357070 IBIS 99 / 7739
21
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
22
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 17357070 IBIS 539 / 7739
23
 (HPO:0001256) Intellectual disability, mild 141 / 7739
24
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 17357070 IBIS 188 / 7739
25
 (HPO:0010535) Sleep apnea 17357070 IBIS 24 / 7739
26
 (HPO:0001250) Seizures 17357070 IBIS 1245 / 7739
27
 (HPO:0000817) Poor eye contact 17357070 IBIS 26 / 7739
28
 (HPO:0000733) Stereotypy 17357070 IBIS 58 / 7739
29
 (HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
30
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
31
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
32
 (HPO:0000717) Autism Very frequent [Orphanet] 17357070 IBIS 108 / 7739
33
 (HPO:0000750) Delayed speech and language development 197 / 7739
34
 (HPO:0002474) Expressive language delay 17357070 IBIS 8 / 7739
35
 (HPO:0010863) Receptive language delay 17357070 IBIS 2 / 7739
36
 (HPO:0002463) Language impairment 17357070 IBIS 15 / 7739
37
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
38
 (HPO:0001263) Global developmental delay 17357070 IBIS 853 / 7739
39
 (HPO:0002357) Dysphasia 17357070 IBIS 33 / 7739
40
 (HPO:0010529) Echolalia 17357070 IBIS 20 / 7739
41
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
42
 (HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
43
 (HPO:0008191) Thyroid agenesis 11 / 7739
44
 (HPO:0002650) Scoliosis Frequent [Orphanet] 17357070 IBIS 705 / 7739
45
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
46
 (HPO:0002020) Gastroesophageal reflux 17357070 IBIS 101 / 7739
47
 (HPO:0011968) Feeding difficulties 240 / 7739
48
 (HPO:0008872) Feeding difficulties in infancy 17357070 IBIS 153 / 7739
49
 (HPO:0004322) Short stature Occasional [Orphanet] 17357070 IBIS 1232 / 7739
50
 (HPO:0001518) Small for gestational age 17357070 IBIS 107 / 7739
51
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
52
 (HPO:0001508) Failure to thrive 17357070 IBIS 454 / 7739
53
 (HPO:0001655) Patent foramen ovale 31 / 7739
54
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
55
 (HPO:0001626) Abnormality of the cardiovascular system 17357070 IBIS 73 / 7739
56
 (HPO:0001631) Atria septal defect 274 / 7739
57
 (HPO:0003146) Hypocholesterolemia 17357070 IBIS 9 / 7739
58
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
59
 (HPO:0001290) Generalized hypotonia 17357070 IBIS 51 / 7739
60
 (HPO:0010547) Muscle flaccidity 466 / 7739
61
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
62
 (HPO:0001324) Muscle weakness 859 / 7739
63
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
64
 (HPO:0003812) Phenotypic variability 129 / 7739
65
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
66
 (OMIM) Long nasal tip 1 / 7739
67
 (OMIM) Decreased cholesterol (less common) 1 / 7739
68
 (OMIM) Structural cardiovascular abnormalities 1 / 7739
69
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
70
 (OMIM) [DEL]Autistic features 43 / 7739
71
 (HPO:0003745) Sporadic 131 / 7739
72
 (OMIM) No overt seizures 1 / 7739
73
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
74
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
75
 (HPO:0012448) Delayed myelination 51 / 7739
76
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Potocki-Lupski syndrome is a developmental disorder characterized by hypotonia, failure to thrive, mental retardation, 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 ...
Diagnosis OMIM Potocki et al. (2000) initially hypothesized that patients with 17p11.2 duplication did not come to medical attention because of their milder phenotype. However, the findings of Potocki et al. (2007) revealed that these patients may have substantial medical ...
Clinical Description OMIM Brown et al. (1996) described 2 unrelated males with developmental delay and mild dysmorphic facial features associated with duplication of 17p11.2. The extent of the duplicated region was determined using single-copy DNA probes and was confirmed by fluorescence ...