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5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly
Author(s) -
Zhang Sjzhong,
Tang Yongcai,
Dai Fupjng,
Nœbuhr Erik
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03493.x
Subject(s) - arachnodactyly , karyotype , osteomalacia , medicine , chromosomal translocation , rickets , dermatology , pediatrics , pathology , genetics , biology , chromosome , osteoporosis , vitamin d and neurology , marfan syndrome , gene
A 12‐year‐old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a de now 5p;12q chromosomal translocation. The karyotype is 46,XY,t(5;12)(12qter→ 12q24.1::5p15→cen→5qter;12pter→cen→12q24.1). The karyotypes of other examined family members are normal. The manifestations of cri du chat syndrome are explained by the loss of a small segment of 5p15 which is responsible for the major stigmata of the syndrome, and the abnormalities of the osseous system may be the results of untreated vitamin D resistant rickets.