MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandtotal autosomal trisomy (MONDO:0020051)
..Starting node
..expandmosaic trisomy 7 ()

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 Sister Nodes: 
..expanddown syndrome ()
..expandmosaic trisomy 1 ()
..expandmosaic trisomy 10 ()
..expandmosaic trisomy 12 ()
..expandmosaic trisomy 14 ()
..expandmosaic trisomy 15 ()
..expandmosaic trisomy 16 ()
..expandmosaic trisomy 17 ()
..expandmosaic trisomy 2 ()
..expandmosaic trisomy 20 ()
..expandmosaic trisomy 22 ()
..expandmosaic trisomy 3 ()
..expandmosaic trisomy 4 ()
..expandmosaic trisomy 5 ()
..expandmosaic trisomy 7 ()
..expandmosaic trisomy 8 ()
..expandmosaic trisomy 9 ()
..expandtrisomy 13 ()
..expandtrisomy 18 ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15771
Name:mosaic trisomy 7
Definition:Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
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Synonyms:Mosaic trisomy chromosome 7; Mosaic trisomy type 7; trisomy 7 mosaicism
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Reference: MedGen:
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