title: Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation.
abstract: Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous disorder. More than one half of the patients with CMTC have additional extra-cutaneous associated congenital anomalies. A subset of patients with CMTC have macrocephaly, the M-CMTC syndrome. This is a report on a patient with the M-CMTC syndrome and a de novo translocation t(2;17)(p11;p13). The etiology and pathology of the M-CMTC syndrome is unknown. Suggestions for the cause for M-CMTC include the occurrence of a new dominant mutation in a single gene, deletion of multiple contiguous genes at a level beyond the resolution of conventional karyotyping and chromosomal mosaicism. This patient did not have chromosomal mosaicism, however he had a translocation. It can be postulated that in the present patient the translocation breakpoints disrupted one or more genes entailing skin lesions but also other features: mental retardation, macrocephaly and facial dysmorphia.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, 67000 Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
mesh_terms: D001284:Atrophy / Q000473:pathology; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D012871:Skin Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012886:Skull / Q000002:abnormalities*; D013684:Telangiectasis / Q000150:complications / Q000235:genetics*; D009626:Terminology as Topic; D014178:Translocation, Genetic