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Distal monosomy 3p
1 OMIM reference -
3 associated genes
18 connected diseases
35 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic intellectual deficit
Hereditary breast and ovarian cancer syndrome
Pancytopenia due to IKZF1 mutations
Precursor B-cell acute lymphoblastic leukemia
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Muscular dystrophy, Selcen type
Primary peritoneal carcinoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Distal 3p deletion
- Monosomy 3pter
- Telomeric monosomy 3p
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CHL1 O00533607416
CNTN4 Q8IWV2607280
CRBN Q96SW2609262
Very frequent
- Hypertelorism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Ptosis
- Short stature / dwarfism / nanism
- Telecanthus / canthal dystopy

Frequent
- Atrioventricular canal
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downturned mouth
- Epicanthic folds
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypotonia
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Microcephaly
- Postaxial polydactyly (hand)
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anteverted nares / nostrils
- Blepharophimosis / short palpebral fissures
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Inguinal / inguinoscrotal / crural hernia
- Sacral sinus / dimple
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Thin / retracted lips
- Triangular face
- Umbilical hernia