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Zpráva o onemocněních · Other

Prader-Willi and Imprinting Disorders

Conditions caused by changes in genes whose activity depends on which parent they were inherited from. Most cases arise from deletions, uniparental disomy or methylation changes that whole genome sequencing cannot fully assess.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 3 onemocnění, která analyzujeme

Prader-Willi syndrome

A condition caused by loss of the paternally inherited 15q11-q13 region, causing low muscle tone and feeding difficulties in infancy followed by excessive appetite, obesity, short stature, hypogonadism and learning difficulties.

Co se diagnózou změní

Early diagnosis allows growth hormone treatment, dietary management and hormone monitoring.

Analyzované geny

Známé také jako

obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet; obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader-Labhart-Willi syndrome; PWS

Zahrnuje 7 příbuzných podtypů ↓
  • Prader-Willi syndrome due to imprinting mutation
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
  • Prader-Willi syndrome due to paternal 15q11q13 deletion
  • Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
  • Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
  • Prader-Willi syndrome due to translocation
  • Schaaf-Yang syndrome
MONDO:0008300OMIM 176270Orphanet 739MedGen 46057

Silver-Russell syndrome

A growth disorder, usually caused by methylation changes at 11p15 or maternal uniparental disomy of chromosome 7 and occasionally by variants in IGF2, PLAG1, HMGA2 or CDKN1C, that causes growth restriction before and after birth and body asymmetry.

Co se diagnózou změní

Diagnosis guides nutrition, blood-sugar and growth management.

Analyzované geny

Známé také jako

Russell-Silver dwarfism; SRS

Zahrnuje 11 příbuzných podtypů ↓
  • Russell-silver syndrome, X-linked
  • Silver-Russell syndrome 1
  • silver-russell syndrome 2
  • Silver-Russell syndrome 3
  • silver-russell syndrome 4
  • Silver-Russell syndrome 5
  • silver-Russell syndrome due to 11p15 microduplication
  • silver-Russell syndrome due to 7p11.2p13 microduplication
  • silver-Russell syndrome due to an imprinting defect of 11p15
  • silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
  • silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
MONDO:0008394Orphanet 813MedGen 104492

Beckwith-Wiedemann syndrome

An overgrowth disorder caused by imprinting changes at 11p15 (and sometimes CDKN1C variants) that can cause large birth size, an enlarged tongue, abdominal wall defects and a higher risk of childhood tumours such as Wilms tumour.

Co se diagnózou změní

Diagnosis leads to childhood tumour surveillance, including abdominal ultrasound.

Analyzované geny

Známé také jako

BWS; exomphalos macroglossia gigantism syndrome; Wiedemann-Beckwith syndrome (WBS)

Zahrnuje 8 příbuzných podtypů ↓
  • Beckwith-Wiedemann syndrome due to 11p15 microdeletion
  • Beckwith-Wiedemann syndrome due to 11p15 microduplication
  • Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
  • Beckwith-Wiedemann syndrome due to CDKN1C mutation
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
  • Beckwith-Wiedemann syndrome due to NSD1 mutation
  • Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
  • Franceschini Vardeu Guala syndrome
MONDO:0007534OMIM 130650Orphanet 116MedGen 2562

Omezení

  • Most cases of these conditions are caused by methylation (imprinting) defects, which short-read whole genome sequencing cannot detect. Large deletions such as the 15q11-q13 deletion can be detected by copy-number analysis, but not which parent they came from, and uniparental disomy is visible only in some cases as long runs of homozygosity. A negative result does not exclude these conditions; methylation testing is the standard diagnostic test.

Další other conditions

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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