Disease Information for Chromosome 20 deletion/Ring syndrome

chromosome 20; The phenotype of trisomy 20p, which results from a parental translocation, includes mild to moderate developmental delay, round face with telecanthus, flat nasal bridge and short palpebral fissures but major pre- and postnatal growth development malformations are rare; The phenotype of interstitial 20p deletion is consistent with Alagille syndrome, an autosomal dominant disease with reduced penetrance and variable expressivity, and is defined by bile duct paucity in association with cardiac, skeletal, ocular and facial abnormalities; 20q13 trisomy shows brachycephaly, hypertelorism, ear anomalies, cleft palate, micrognathia, chin dimple, anteverted nares, CNS malformations, heart defects, psychomotor retardation and reduced life expectancy; ring chromosome 20 presents with absence of major congenital malformations and paucity of dysmorphic features; patients can show behavioural problems, seizures, mild dysmorphic features and variable degrees of mental retardation; Sipple syndrome, or multiple endocrine neoplasia type 2, is assigned to chromosome 20p;

-----------------[biology-online_org 2006 website]----------

Medical Dictionary: Chromosome 20 ring syndrome

Chromosome 20 ring syndrome: A rare chromosomal anomaly in which both ends of chromosome 20 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure; Seizures, behavior problems, variable degrees of mental retardation and minor anomalies are the most common clinical characteristics but there does not appear to be a constant pattern of dysmorphic signs

------[wrong diagnosis_com website 2006]------------------

Syndrome chromosome 20 ring syndrome; r(20) syndrome;

ring chromosome 20; Formerly Known ring chromosome F;

Major Features Head and neck: Microcephaly, small sella turcica, and large fontanels; Ears: Large ears; Eyes: Slanted palpebral fissures; Epicanthal folds; Epilepsy;

Congenital heart defect; Cryptorchidism and kidney abnormalities; Small pituitary gland and growth hormone deficiency; Growth, motor, speech, and mental retardation;

Clumsiness; Low frustration level and other behavioral problems--[Jablonsky congenital syndrome/NIH website 2006]--

(Edit)