Mosaic trisomy 16

Summary

Mosaic trisomy 16 (MONDO:0015729) is a disease. A subtype of chromosome 16 trisomy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 43

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		226	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

43 HPO clinical features (Orphanet curated; top 43 by frequency):

HPO ID	Term	Frequency
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0001518	Small for gestational age	Frequent (30-79%)
HP:0001622	Premature birth	Frequent (30-79%)
HP:0001627	Abnormal heart morphology	Frequent (30-79%)
HP:0100602	Preeclampsia	Frequent (30-79%)
HP:0000047	Hypospadias	Occasional (5-29%)
HP:0000085	Horseshoe kidney	Occasional (5-29%)
HP:0000119	Abnormality of the genitourinary system	Occasional (5-29%)
HP:0000750	Delayed speech and language development	Occasional (5-29%)
HP:0000765	Abnormal thorax morphology	Occasional (5-29%)
HP:0001159	Syndactyly	Occasional (5-29%)
HP:0001195	Single umbilical artery	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0001631	Atrial septal defect	Occasional (5-29%)
HP:0001643	Patent ductus arteriosus	Occasional (5-29%)
HP:0002011	Morphological central nervous system abnormality	Occasional (5-29%)
HP:0002089	Pulmonary hypoplasia	Occasional (5-29%)
HP:0004484	Craniofacial asymmetry	Occasional (5-29%)
HP:0006267	Large placenta	Occasional (5-29%)
HP:0009800	Maternal diabetes	Occasional (5-29%)
HP:0011024	Abnormality of the gastrointestinal tract	Occasional (5-29%)
HP:0011471	Gastrostomy tube feeding in infancy	Occasional (5-29%)
HP:0030084	Clinodactyly	Occasional (5-29%)
HP:0100555	Asymmetric growth	Occasional (5-29%)
HP:0000154	Wide mouth	Very rare (<1-4%)
HP:0000365	Hearing impairment	Very rare (<1-4%)
HP:0000366	Abnormality of the nose	Very rare (<1-4%)
HP:0000954	Single transverse palmar crease	Very rare (<1-4%)
HP:0001250	Seizure	Very rare (<1-4%)
HP:0001545	Anteriorly placed anus	Very rare (<1-4%)
HP:0001680	Coarctation of aorta	Very rare (<1-4%)
HP:0002088	Abnormal lung morphology	Very rare (<1-4%)
HP:0002245	Meckel diverticulum	Very rare (<1-4%)
HP:0003319	Abnormality of the cervical spine	Very rare (<1-4%)
HP:0005587	Profuse pigmented skin lesions	Very rare (<1-4%)
HP:0005773	Short forearm	Very rare (<1-4%)
HP:0009778	Short thumb	Very rare (<1-4%)
HP:0011470	Nasogastric tube feeding in infancy	Very rare (<1-4%)
HP:0011640	Single coronary artery origin	Very rare (<1-4%)
HP:0012372	Abnormal eye morphology	Very rare (<1-4%)
HP:0031703	Abnormal ear morphology	Very rare (<1-4%)
HP:0100864	Short femoral neck	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mosaic trisomy 16
Mondo ID	MONDO:0015729
MeSH	C538041
Orphanet	1708
SNOMED CT	764621006
UMLS	C4707009
MedGen	1633950
GARD	0018741
Is cancer (heuristic)	no

Also known as: Mosaic trisomy chromosome 16 · Mosaic trisomy type 16 · trisomy 16 mosaicism

Disease family

This is a subtype of chromosome 16 trisomy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 16 disorder › chromosome 16 trisomy › mosaic trisomy 16

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.