PT - JOURNAL ARTICLE AU - N C Magnelli AU - E Therman TI - Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome. AID - 10.1136/jmg.12.1.105 DP - 1975 Mar 01 TA - Journal of Medical Genetics PG - 105--108 VI - 12 IP - 1 4099 - http://jmg.bmj.com/content/12/1/105.short 4100 - http://jmg.bmj.com/content/12/1/105.full SO - J Med Genet1975 Mar 01; 12 AB - A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands, brachymetaphalangy, short second fingers, broad thumbs, short metatarsal bones, and unusually big first toes. It seems almost certain that the syndrome was caused by a chromosome deletion involving about half of 12p which was present in all of the lymphocytes examined.