Langer-Giedion syndrome,in a child with complex structural aberration of chromosome 8 |
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| Authors: | D. V. Zaletajev G. S. Marincheva |
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| Affiliation: | 1. Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Moskvorechye 1, 115478, Moscow, the USSR
2. Institute of Psychiatry, Ministry of Health of RSFSR, Poteshnaya 3, 107076, Moscow, the USSR
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| Abstract: | A patient with typical features of the Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II) is described. In the karyotype an interstitial deletion of the long arm of chromosome 8 (band 8q22) was observed as the result of a complex rearrangement of chromosomes 1 and 8: 46,XY inv(8)(q23 leads to q242), del(8)(q221 leads to q223), ins(8;1) (q221;p321 p341;q242). Previously reported cases of Langer-Giedion syndrome with deletion of 8q are compared with the present one. |
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