Tetrasomy 18p

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

Retrognathia

An abnormality in which the mandible is mislocalised posteriorly.


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PMID (PMCID)
3703823
 MIXED_SAMPLE Adult
Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.
Gocke H, Muradow I, Zerres K, Hansmann M.
Prenat Diagn. 1986;6(2):151-7.
The tetrasomy 18p is associated with a uniform phenotype, even in fetal life, characterized by a small head with protuberant occiput, low-set ears with posterior rotation, epicanthic fold, sharp pinched nose, convex and poorly formed philtrum, high-arched palate, retrognathia, flexion contractures of fingers, short and broad hallux, hypoplastic penis, angulation of clavicles and mild scoliosis.