LEONA e.V. - Familienselbsthilfe bei seltenen chromosomalen Veränderungen
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Description of patient organisation
LEONA e.V. ist Anlaufstelle für alle seltenen Chromosomenanomalien, ohne eigenes Selbsthilfeangebot. Die Kontaktvermittlung zwischen Betroffenen ist Schwerpunkt. Es werden auch Familien, deren Kinder andere seltene Syndrome, aber vergleichbare Symptome haben oder in der gleichen Region leben vermittelt. Die Selbsthilfe verfügt über 660 Kontaktadressen zu ca. 410 Syndromen. Sie bietet Unterstützung in allen Lebenslagen an: Vom auffälligen Schwangerschaftsbefund und der damit verbundenen Frage, welche Auswirkungen die Störungen haben können, über den Alltag mit chromosomal geschädigten Kindern, Fragen und Problemen zu anstehenden Operationen, Therapien, Therapeuten, Hilfsmitteln bis hin zur Durchsetzung von Ansprüchen gegenüber allen Leistungserbringern.
Bei aller Seltenheit der einzelnen Diagnosen gibt es auch viele Gemeinsamkeiten: Stärkung und Unterstützung durch das Netzwerk. Dabei hat LEONA kein klassisches Selbsthilfeangebot von regelmäßigen Regionaltreffen. Dazu ist die Anzahl der Betroffenen pro Syndrom zu klein, die Zahl der Diagnosen zu groß. Hilfe findet am Telefon, per E-Mail oder in geschlossenen Internetforen statt. Einmal jährlich findet eine bundesweite Familientagung statt. Das jährlich erscheinende Heft „Einblicke“ mit Berichten der Familien und weiteren Informationen ist nicht nur für die Familien, sondern auch für Fachleute eine wichtige Informationsquelle. Neben den bundesweiten Ansprechpartnern gibt es 31 regionale AnsprechpartnerInnen in Deutschland.
Bei aller Seltenheit der einzelnen Diagnosen gibt es auch viele Gemeinsamkeiten: Stärkung und Unterstützung durch das Netzwerk. Dabei hat LEONA kein klassisches Selbsthilfeangebot von regelmäßigen Regionaltreffen. Dazu ist die Anzahl der Betroffenen pro Syndrom zu klein, die Zahl der Diagnosen zu groß. Hilfe findet am Telefon, per E-Mail oder in geschlossenen Internetforen statt. Einmal jährlich findet eine bundesweite Familientagung statt. Das jährlich erscheinende Heft „Einblicke“ mit Berichten der Familien und weiteren Informationen ist nicht nur für die Familien, sondern auch für Fachleute eine wichtige Informationsquelle. Neben den bundesweiten Ansprechpartnern gibt es 31 regionale AnsprechpartnerInnen in Deutschland.
Care provisions
This support group organisation offers the following
- Internal forum
- Regular meetings
- Regional associations / regional representatives
- Newsletter / Association journal
Preview of the represented diseases 1
Partial deletion of the short arm of the chromosome X
2q24 microdeletion syndrome
Tetrasomy 12p
Partial deletion of the short arm of chromosome 20
Uniparental disomy of chromosome 14
Monosomy 18q
X chromosome number anomaly
Alagille syndrome due to 20p12 microdeletion
Tetraploidy
Isochromosome Y
Partial duplication of the short arm of chromosome 10
Anomaly of chromosome 13
Isochromosomy Yp
Ring chromosome 4 syndrome
Partial duplication/triplication of the short arm of chromosome 5
Trisomy 1q
Distal duplication 2p
Partial duplication of chromosome 2
Partial deletion of the long arm of chromosome 12
Partial duplication of the long arm of chromosome 6
Mosaic trisomy 14
7q11.23 microduplication syndrome
Partial deletion of the long arm of chromosome 16
Ring chromosome 3 syndrome
6p22 microdeletion syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Inverted duplicated chromosome 15 syndrome
15q11q13 microduplication syndrome
Partial duplication of the short arm of chromosome 3
Paris-Trousseau thrombocytopenia
Partial deletion of the short arm of chromosome 18
Partial deletion of chromosome 5
Partial deletion of the long arm of chromosome 14
Rubinstein-Taybi syndrome
Mosaic trisomy 22
Y chromosomal anomaly
45,X/46,XY mixed gonadal dysgenesis
Ring chromosome 6 syndrome
Partial duplication of the short arm of chromosome 8
Anomaly of chromosome 8
Trisomy 4p
Distal duplication 11q
Distal duplication 1p36
Partial duplication of the long arm of chromosome 4
Maternal uniparental disomy of chromosome 22
Trisomy X
Partial deletion of the short arm of chromosome 16
Distal monosomy 7q36
Distal 17p13.3 microdeletion syndrome
SATB2-associated syndrome due to a chromosomal rearrangement
Partial duplication of chromosome 16
17q21.31 microduplication syndrome
Ring chromosome 2 syndrome
Partial duplication of chromosome 8
1q21.1 microduplication syndrome
Anomaly of chromosome 2
Tetrasomy 18p
Paternal uniparental disomy of chromosome 6
Partial duplication of the short arm of chromosome 6
Uniparental disomy of chromosome 21
Turner syndrome due to structural X chromosome anomalies
Y chromosome number anomaly
Partial duplication of the long arm of chromosome 2
Ring chromosome 7 syndrome
Anomaly of chromosome 18
2p21 microdeletion syndrome without cystinuria
Partial deletion of the long arm of chromosome 11
Partial deletion of the short arm of chromosome 12
Distal duplication 14q
Monosomy 9q22.3
Partial duplication/triplication of chromosome 5
Ring chromosome Y syndrome
4p16.3 microduplication syndrome
20q11.2 microduplication syndrome
Monosomy X
14q11.2 microdeletion syndrome
Tetrasomy 21
Partial deletion of chromosome 18
Distal deletion 3p
Monosomy 22
Trisomy 17p
X chromosome anomaly
Williams syndrome
Triploidy
Distal duplication 16q
Uniparental disomy of chromosome 7
Partial deletion of the short arm of chromosome 10
1q44 microdeletion syndrome
Partial duplication of the long arm of chromosome 20
7q31 microdeletion syndrome
Distal 16p11.2 microdeletion syndrome
Partial deletion of the long arm of chromosome 9
Anomaly of chromosome 12
Smith-Magenis syndrome
15q13.3 microdeletion syndrome
Maternal uniparental disomy of chromosome 1
2q23.1 microdeletion syndrome
Distal 7q11.23 microdeletion syndrome
Distal 7q11.23 microduplication syndrome
Ring chromosome 8 syndrome
Partial deletion of chromosome 8
Mosaic trisomy 2
Isochromosomy Yq
Partial deletion of the short arm of chromosome 8
12q15q21.1 microdeletion syndrome
Mosaic trisomy 15
16p11.2p12.2 microduplication syndrome
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Distal duplication 13q
Distal duplication 3p
Monosomy 13q14
21q22.11q22.12 microdeletion syndrome
3q13 microdeletion syndrome
Ring chromosome 5 syndrome
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Partial duplication of chromosome 19
8q21.11 microdeletion syndrome
Paternal uniparental disomy of chromosome 5
Partial duplication of chromosome 11
11p15.4 microduplication syndrome
17q12 microduplication syndrome
Partial duplication of the long arm of chromosome 18
Tetrasomy 5p
Ring chromosome 9 syndrome
14q11.2 microduplication syndrome
Ring chromosome 13 syndrome
Partial duplication of the long arm of chromosome 17
Rare chromosomal anomaly
Partial deletion of the short arm of chromosome 7
49,XYYYY syndrome
Microtriplication 11q24.1
Partial duplication of chromosome 3
Maternal uniparental disomy of chromosome X
Okihiro syndrome due to 20q13 microdeletion
Distal 17p13.1 microdeletion syndrome
Distal duplication 15q
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Uniparental disomy of chromosome 1
Mosaic trisomy 20
Silver-Russell syndrome due to 7p11.2p13 microduplication
Distal deletion 1q
Anomaly of chromosome 20
1q41q42 microdeletion syndrome
Trisomy 13
Partial deletion of the long arm of chromosome 6
Anomaly of chromosome 4
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Tetrasomy 9p
Atypical Norrie disease due to Xp11.3 microdeletion
Mosaic monosomy X
Distal duplication 7p
Miller-Dieker syndrome
Distal deletion 6p
Sotos syndrome
Partial deletion of chromosome 6
Paternal uniparental disomy of chromosome 7
Partial duplication/triplication of chromosome 9
48,XYYY syndrome
Ring chromosome 11 syndrome
Distal Xq28 microduplication syndrome
Partial deletion of the short arm of chromosome 5
16p11.2p12.2 microdeletion syndrome
8q22.1 microdeletion syndrome
Partial duplication of the long arm of chromosome 15
Partial duplication of chromosome X
Trisomy 5p
Trisomy 8p
Partial deletion of chromosome 12
Distal 22q11.2 microdeletion syndrome
Partial deletion of the long arm of chromosome 4
X chromosome number anomaly with female phenotype
Oculootodental syndrome
Mosaic trisomy 16
Partial duplication of chromosome 17
17q23.1q23.2 microdeletion syndrome
Distal duplication 17q
10q22.3q23.3 microdeletion syndrome
Anomaly of chromosome 14
8p11.2 deletion syndrome
Proximal 16p11.2 microduplication syndrome
15q overgrowth syndrome
1p36 deletion syndrome
Distal duplication 20q
Partial deletion of the short arm of chromosome 3
17q21.31 microdeletion syndrome
49,XXXYY syndrome
Partial duplication of the long arm of chromosome 13
X-linked intellectual disability-retinitis pigmentosa syndrome
Xq27.3q28 duplication syndrome
Partial deletion of the long arm of chromosome 22
Partial deletion of chromosome 19
Ring chromosome 16 syndrome
Deafness-infertility syndrome
Anomaly of chromosome 9
Paternal uniparental disomy of chromosome 21
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
48,XXXY syndrome
Uniparental disomy of chromosome 11
Maternal uniparental disomy of chromosome 13
20p12.3 microdeletion syndrome
Mosaic trisomy 1
Partial deletion of chromosome 9
Partial deletion of the long arm of chromosome 20
Trisomy 18
49,XXXXY syndrome
Mosaic trisomy 9
22q11.2 deletion syndrome
2q31.1 microdeletion syndrome
Microduplication Xp11.22p11.23 syndrome
Partial duplication/triplication of the short arm of chromosome 18
Distal deletion 13q
Partial duplication of the long arm of chromosome 10
Chromosom 1p-Deletion, partielle
Mosaik-Trisomie 4
Ringchromosom-1-Syndrom
Nicht-distale Deletion 12q
Partielle Duplikation von Chromosom 20
Mikrodeletionssyndrom 12q14
Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 12
Distale Deletion 7p
Chromosom 1, partielle Duplikation des kurzen Arms
Potocki-Shaffer-Syndrom
Uniparentale Disomie des Chromosom 20, paternale
Mikrodeletionssyndrom 3q29
Mikroduplikationssyndrom 16p13.11
Mikroduplikationssyndrom 22q11.2
Ringchromosom-15-Syndrom
Syndaktylie-Nystagmus-Syndrom durch Mikroduplikation 2q31.1
Chromosom 16, partielle Duplikation des kurzen Arms
Chromosom 3-Anomalie
Distale Deletion 9p
Chromosom Y und X-Anomalie
Chromosom 2q-Deletion, partielle
Chromosom X, partielle Duplikation des langen Arms
Mikrodeletionssyndrom 20q13.33
Distale Triplikation 15q
Temple-Syndrom durch paternale Mikrodeletion 14q32.2
Chromosom 18q-Deletion, partielle
Chromosom 19-Anomalie
Chromosom 2-Deletion, partielle
Gonosomen-Anomalie
Distale Duplikation 22q
Chromosom 8, partielle Duplikation des langen Arms
8p-Invertierte Duplikation/Deletion-Syndrom
Mikrodeletionssyndrom 9q31.1q31.3
Xq28-Duplikationssyndrom, proximales
Chromosom 7, partielle Duplikation des langen Arms
Mikroduplikationssyndrom 3q26
Chromosom Y mit Strukturanomalität
Mosaik-Trisomie 8
Ringchromosom-10-Syndrom
Mikroduplikationssyndrom 16p13.3
Distale Deletion 19p
Chromosom 17q-Deletion, partielle
Mikrodeletionsyndrom 14q22q23
Mosaik-Trisomie 17
Chromosom 7-Deletion, partielle
Distale Duplikation 6p
Nicht-distale Duplikation 9q
Uniparentale Disomie 4, maternale
Mikrodeletionssyndrom 3q27.3
Mikroduplikationssyndrom 3q29
Jacobsen-Syndrom
Uniparentale Disomie 1, paternale
Mikrodeletionssyndrom Xp22.3
Mikroduplikationssyndrom 7p22.1
Chromosom X, partielle Deletion des langen Arms
WAGR-Syndrom
Chromosom 4, partielle Duplikation des kurzen Arms
Trisomie 20p
Tetragametischer Chimärismus
Chromosom 19p-Deletion, partielle
Partielle Trisomie/Tetrasomie von Chromosom 18
Chromosom 10-Duplikation, partielle
Mikrodeletionssyndrom 16q24.3
Chromosom 15q-Deletion, partielle
Kagami-Ogata-Syndrom durch paternale uniparentale Disomie von Chromosom 14
Ringchromosom-12-Syndrom
Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 9
Mesomelie-Synostosen-Syndrom
Distale Duplikation 2q
Mikrodeletionssyndrom 8p23.1
Chromosom 20-Deletion, partielle
Nicht-distale Duplikation 10q
Mikrodeletionssyndrom 15q24
Partielle Duplikation des langen Arms von Chromosom 5
Distale Deletion 4q
Partielle Deletion des kurzen Arms von Chromosom 17
Wolf-Hirschhorn-Syndrom
Uniparentale Disomie 2, maternale
Katzenaugensyndrom
Deletion 5q35
Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3
Mikrodeletionssyndrom 6q16
Chromosom 5-Anomalie
Chromosom 7, partielle Duplikation des kurzen Arms
Tricho-rhino-phalangeales-Syndrom Typ 2
Terminales 6q-Deletion-Syndrom
Chromosom 2, partielle Duplikation des kurzen Arms
Prader-Willi-Syndrom durch maternale uniparentale Disomie 15
Mikrodeletionssyndrom 3q26q27
Chromosom 21-Anomalie
Mosaik-Trisomie 5
Chromosom 13q-Deletion, partielle
47,XYY-Syndrom
Ringchromosom-14-Syndrom
Mikrodeletionssyndrom 16p11.2, proximales
Mikroduplikationssyndrom 17p11.2
Mikrodeletionssyndrom 20p13
Mosaik-Trisomie 7
Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz
Distale Duplikation 5q
Mosaik-Trisomie 10
Chromosom 3, partielle Duplikation des langen Arms
Chromosom 10-Deletion, partielle
Monosomie 9p
Cri-du-chat-Syndrom
Chromosom 22, partielle Duplikation des langen Arms
Distale Deletion 10q
Chromosom 11p-Deletion, partielle
Mikrodeletionssyndrom 2q32q33
Chromosom X-Anomalie, numerische , männlicher Phänotyp
Mikrodeletionssyndrom 17q12
Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7
Uniparentale Disomie 9, maternale
Mikrodeletionssyndrom 19p13.13
Ringchromosom 17-Syndrom
Chromosom 1, partielle Duplikation des langen Arms
Tetrasomie X
Chromosom 3-Deletion, partielle
Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16
Partielle Deletion des langen Arms von Chromosom 10
Chromosom 15-Anomalie
Chromosom X mit Strukturanomalität
Mowat-Wilson-Syndrom durch Monosomie 2q22
Chromosom Y-Deletion, partielle
Distale Duplikation 4q
Monosomie 20q, nicht-distale
Uniparental Disomie 15
Trisomie 10p
Kleefstra-Syndrom durch Mikrodeletion 9q34
Chromosom 19, partielle Duplikation des langen Arms
Uniparentale Disomie 6, maternale
Chromosom 6-Duplikation, partielle
Chromosom 9p-Deletion, partielle
Chromosom 8q-Deletion, partielle
Chromosom 10-Anomalie
Mikrodeletionssyndrom 2p15p16.1
Mikrodeletionssyndrom 19q13.11
Chromosom 16-Deletion, partielle
FOXG1-Syndrom durch Mikrodeletion 14q12
Mikrodeletionssyndrom 12p12.1
Ringchromosom-18-Syndrom
Duplikation 18p
48,XXYY-Syndrom
Polyploidie
Prader-Willi-Syndrom durch paternale Deletion 15q11.13
Mosaik-Trisomie 12
Anomaly of chromosome 7
Partial deletion of the long arm of chromosome 7
Xp21 deletion syndrome
Distal deletion 15q
Distal deletion 14q
Partial deletion of chromosome 1
Partial duplication of the long arm of chromosome 16
Monosomy 13q34
Ring chromosome 19 syndrome
Partial deletion of the short arm of chromosome 6
4q21 microdeletion syndrome
Maternal uniparental disomy of chromosome 16
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
8p23.1 duplication syndrome
Uniparental disomy of chromosome 13
Partial deletion of the long arm of chromosome 5
5q14.3 microdeletion syndrome
Pentasomy X
14q24.1q24.3 microdeletion syndrome
17q11 microdeletion syndrome
Distal deletion 12p
Trisomy 12p
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Distal duplication 18q
Partial deletion of chromosome X
Anomaly of chromosome 17
Autosomal anomaly
21q deletion syndrome
1p31p32 microdeletion syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Distal deletion 17q
5p13 microduplication syndrome
Anomaly of chromosome 1
Turner syndrome
Partial duplication of chromosome 1
Distal deletion 10p
Distal duplication 6q
Partial deletion of chromosome 11
Distal deletion 12q
Temple syndrome due to maternal uniparental disomy of chromosome 14
1p21.3 microdeletion syndrome
16q24.1 microdeletion syndrome
16p13.11 microdeletion syndrome
17q11.2 microduplication syndrome
Recombinant 8 syndrome
Partial duplication of the long arm of chromosome 14
Partial deletion of the short arm of chromosome 4
X small rings
Rubinstein-Taybi syndrome due to CREBBP mutations
Ring chromosome 20 syndrome
Mosaic trisomy 3
Xq12-q13.3 duplication syndrome
Distal duplication 19q
Otodental syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
Mosaic variegated aneuploidy syndrome
Uniparental disomy of chromosome X
Paternal 20q13.2q13.3 microdeletion syndrome
2q37 microdeletion syndrome
Monosomy 22q13.3
10q22.3q23.3 microduplication syndrome
9p13 microdeletion syndrome
Partial deletion of chromosome 4
17p13.3 microduplication syndrome
Non-distal deletion 10q
Anomaly of chromosome 11
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Monosomy 18p
Partial duplication of the long arm of chromosome 11
Partial deletion of the short arm of chromosome 2
Distal duplication 9q
1q21.1 microdeletion syndrome
Partial deletion of the long arm of chromosome 21
Ring chromosome 21 syndrome
Homozygous 2p21 microdeletion syndrome
Distal duplication 10q
Trisomy 8q
Emanuel syndrome
Partial duplication of chromosome 7
Non-distal monosomy 7p
Paternal uniparental disomy of chromosome 13
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
8q12 microduplication syndrome
Maternal uniparental disomy of chromosome 21
Anomaly of chromosome 6
Xp22.13p22.2 duplication syndrome
Uniparental disomy of chromosome 20
Partial deletion of the long arm of chromosome 3
2p13.2 microdeletion syndrome
Distal 22q11.2 microduplication syndrome
Silver-Russell syndrome due to 11p15 microduplication
2q23.1 microduplication syndrome
Partial duplication of the short arm of chromosome X
6q25 microdeletion syndrome
Partial deletion of the long arm of chromosome 19
Anomaly of chromosome 22
Angelman syndrome due to maternal 15q11q13 deletion
Partial duplication of the short arm of chromosome 17
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
15q11.2 microdeletion syndrome
Partial duplication of chromosome 4
Partial duplication of the long arm of chromosome 9
Paternal uniparental disomy of chromosome X
Partial deletion of chromosome 17
Distal duplication 8q
Partial deletion of the long arm of chromosome 1
Uniparental disomy of chromosome 6
Polysomy of X chromosome
Distal monosomy 20q
Ring chromosome 22 syndrome
Maternal uniparental disomy of chromosome 20
Partial duplication of the short arm of chromosome 11
Anomaly of chromosome 16
5q35 microduplication syndrome
Non-distal duplication 13q
19p13.12 microdeletion syndrome
Trisomy 9p
7.62869751563122251.485776400000006LEONA e.V. - Familienselbsthilfe bei seltenen chromosomalen Veränderungen
Last updated:
25.10.2023