Chromosome 15q11-q13 duplication syndrome

Synonyms

15q11.2-q13.1 Duplication Syndrome; DUPLICATION 15q11-q13 SYNDROME

Modes of inheritance

Heterogeneous

Heterogeneous

MedGen UID: 67020, Concept ID: C0242960, Organism Attribute

Source: HPO

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

(HPO)
Autosomal dominant inheritance

Autosomal dominant inheritance

MedGen UID: 141047, Concept ID: C0443147, Intellectual Product

Source: HPO, OMIM, Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

(HPO, OMIM, Orphanet)
Multifactorial inheritance

Multifactorial inheritance

MedGen UID: 109109, Concept ID: C0600599, Genetic Function

Source: HPO, Orphanet

A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.

(HPO, Orphanet)
Sporadic

Sporadic

MedGen UID: 342827, Concept ID: C1853237, Finding

Source: HPO, OMIM

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.

(HPO, OMIM)
Inheritance with unknown mechanism

Inheritance with unknown mechanism

MedGen UID: 831588, Concept ID: CN227389, Intellectual Product

Source: Orphanet

Describes an inherited disorder with unknown mode of inheritance.

(Orphanet)
not inherited

not inherited

MedGen UID: 832438, Concept ID: CN227390, Intellectual Product

Source: Orphanet

Describes a disorder that is not inherited.

(Orphanet)