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Betegségjelentés · 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.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A vizsgált 3 betegség

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.

Mit változtat a diagnózis

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

Vizsgált gének

Más néven

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

7 kapcsolódó altípust tartalmaz ↓
  • 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.

Mit változtat a diagnózis

Diagnosis guides nutrition, blood-sugar and growth management.

Vizsgált gének

Más néven

Russell-Silver dwarfism; SRS

11 kapcsolódó altípust tartalmaz ↓
  • 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.

Mit változtat a diagnózis

Diagnosis leads to childhood tumour surveillance, including abdominal ultrasound.

Vizsgált gének

Más néven

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

8 kapcsolódó altípust tartalmaz ↓
  • 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

Korlátok

  • 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.

További other conditions

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Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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