Distal trisomy 17q

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.7%)		 3359688
 Distal trisomy of chromosome 17q due to inverted tandem duplication.
Shimizu T, Ikeuchi T, Shinohara T, Ohba S, Miyaguchi H, Akiyama T, Shibata T.
Clin Genet. 1988;33(4):311-4.
Microcephaly Blepharophimosis
Chromosomes, Human, Pair 17 Females Homo sapiens Infant Intellectual Disability Phenotype Trisomy
2
(40.2%)		 477015
 Distal trisomy 17q.
Turleau C, de Grouchy J, Bouveret JP.
Clin Genet. 1979;16(1):54-7.
Frontal bossing
Chromosomes, Human, 16-18 Chromosomes, Human, 4-5 Dermatoglyphics Homo sapiens Infant, Newborn Intellectual Disability Male Syndrome Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000768 Pectus carinatum Frequent (79-30%)
HP:0001161 Hand polydactyly Frequent (79-30%)
HP:0001761 Pes cavus Frequent (79-30%)
HP:0001822 Hallux valgus Frequent (79-30%)
HP:0002000 Short columella Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002572 Episodic vomiting Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0003510 Severe short stature Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0008905 Rhizomelia Frequent (79-30%)
HP:0009911 Abnormal temporal bone morphology Frequent (79-30%)
HP:0000075 Renal duplication Occasional (29-5%)
HP:0000411 Protruding ear Occasional (29-5%)
HP:0000752 Hyperactivity Occasional (29-5%)
HP:0001166 Arachnodactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia Occasional (29-5%)
HP:0001388 Joint laxity Occasional (29-5%)
HP:0001627 Abnormal heart morphology Occasional (29-5%)
HP:0001747 Accessory spleen Occasional (29-5%)
HP:0001845 Overlapping toe Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0006897 Cranial nerve VI palsy Occasional (29-5%)
HP:0008619 Bilateral sensorineural hearing impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID