Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 231130
OMIM Id:
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Antenatal
Neonatal
23061425 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Beckwith-Wiedemann syndrome
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare oncologic disease
 -Rare otorhinolaryngologic disease
 -Rare renal disease
Complex chromosomal rearrangement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Comment:

High-resolution DNA methylation microarray analysis revealed a gain of DNA methylation in the translocation/inversion patients affecting the p-ter segment of chromosome 11p15, including both imprinted domains. Beckwith-Wiedemann syndrome (BWS) patients that inherited a maternal translocation or inversion demonstrated reduced expression of the growth suppressing imprinted gene, CDKN1C in Domain 2. The data demonstrate that translocations and inversions involving imprinted domain 2 on chromosome 11p15.5, alter regional DNA methylation patterns and imprinted gene expression in cis, suggesting that these epigenetic alterations are generated by an alteration in "chromatin context". In <1% of BWS cases, cytogenetically visible chromosomal changes are associated with the BWS phenotype. These include paternally transmitted duplications of chromosome 11p15 and maternally transmitted translocations or inversions (PMID:22079941).

Symptom Information: Sort by abundance 

1
 (HPO:0004464) Postauricular pit 23061425; 22079941 IBIS 3 / 7739
2
 (HPO:0001520) Large for gestational age Frequent [IBIS] 23061425; 22079941; 1609847 IBIS 34 / 7739
3
 (HPO:0001998) Neonatal hypoglycemia 22079941 IBIS 22 / 7739
4
 (HPO:0001629) Ventricular septal defect 1609847 IBIS 316 / 7739
5
 (HPO:0000158) Macroglossia Frequent [IBIS] 23061425; 22079941; 1609847 IBIS 119 / 7739
6
 (HPO:0001324) Muscle weakness 1609847 IBIS 859 / 7739
7
 (HPO:0001561) Polyhydramnios 23061425 IBIS 191 / 7739
8
 (HPO:0002557) Hypoplastic nipples 1609847 IBIS 33 / 7739
9
 (HPO:0000914) Shield chest 1609847 IBIS 14 / 7739
10
 (HPO:0003271) Visceromegaly Frequent [IBIS] 22079941 IBIS 8 / 7739
11
 (HPO:0010866) Abdominal wall defect Frequent [IBIS] 22079941; 23061425; 22079941; 1609847 IBIS 5 / 7739
12
 (HPO:0001537) Umbilical hernia 22079941 IBIS 206 / 7739
13
 (HPO:0001539) Omphalocele 23061425; 22079941; 1609847 IBIS 102 / 7739
14
 (HPO:0000356) Abnormality of the outer ear Frequent [IBIS] 22079941 IBIS 85 / 7739
15
 (HPO:0009908) Anterior creases of earlobe 22079941; 1609847 IBIS 10 / 7739
16
 (HPO:0001052) Nevus flammeus Frequent [IBIS] 23061425 IBIS 88 / 7739
17
 (HPO:0000105) Enlarged kidneys 23061425 IBIS 30 / 7739
18
 (HPO:0030148) Heart murmur 1609847 IBIS 29 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: