D-1 RING CHROMOSOME IN NEW BORN WITH PECULIAR FACE POLYDACTYLY IMPERFORATE ANUS ARRHINENCEPHALY AND OTHER MALFORMATIONS
D-1 RING CHROMOSOME IN NEW BORN WITH PECULIAR FACE POLYDACTYLY IMPERFORATE ANUS ARRHINENCEPHALY AND OTHER MALFORMATIONS
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DOI：
10.1136/jmg.7.4.399
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发表时间：
1970-01-01
影响因子：
4
通讯作者：
SPERLING K
中科院分区：
文献类型：
--
作者：
BILES A R JR;LUEERS T;SPERLING K
Discussion In all cases of D ring chromosome there are dif-ferences and similarities in structural patterns as well as in the clinically associated picture, but a common feature of all investigations is a high percentage of cells containing a ring. We believe, as suggested by Lejeune (1968), that the various sizes of ring chromosomes result from sister-strand exchange. Of particular interest is the comparison of malformations in patients with D ring chromosomes and in patients with other aberrations in the D group such as total and partial D trisomy. In all cases the identification of the D group chromosome must be considered. In the case of Sparkes et al.(1967), the autoradiographic findings suggest a D2 chromosome, while in our patient and those of Bloom, Gerald, and Reisman (1967), and of Mikkelsen and Niebuhr (1969) a D1 chromosome is considered to be involved. Infants with D1 trisomy (Patau syndrome) seldom survive the first few days of life. Common features are microphthalmia with narrowing of the eyelids and the lips, cleft palate and auricular de-formities. Often associatedare defects in the skull
