Severe anomalies associated with ring chromosome 7

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منابع مشابه

Severe Anomalies Associated With Ring Chromosome

Seven previous cases of ring chromosome 7 (r(7)) have been reported in association with minor anomalies with and without mental retardation [Zackai and Breg, 1973; Nakano and Miyamoto, 1977; DeLozier et al., 1982; Barros et al., 1986; Kohyama et al., 1988; Koiffmann et al., 19901. All of the reported patients had evidence of mosaicism with the r(7) line predominating and low frequencies of doub...

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Multiple congenital anomalies associated with a ring-D chromosome.

Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A (Gordon and Cooke, 1964), in group B (Rohde and Tompkins, 1965), in group C (Lindsten and Tillinger, 1962; Turner et al., 1962; Luers, Struck, and Nevinny-Sticke...

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Ring chromosome 5 with dental anomalies.

Although ring chromosomes are observed in ahnost all autosomal groups in man, they are rare. We describe a male patient exldbiting cd du chat syndrome in which cytogenetic studies demonstrate the presonse of a ring chromosome 5. Deletion o£ the ring chromosome 5 is found between the p15 and q35 bands. Dental, medical and cytogenetic findings are compared to other ring chromosome 5 cases descMbe...

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Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital an...

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Cardiac anomalies associated with supramitral ring.

We read with interest the article in the November 2010 edition by Brown et al. in which the authors have presented their experience in managing 27 patients with supramitral ring (SMR) associated with other cardiac anomalies [1]. Coming from authors with many publications to their credit, we were surprised to read the fourth paragraph of their discussion wherein the authors have sought to be the...

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ژورنال

عنوان ژورنال: American Journal of Medical Genetics

سال: 1991

ISSN: 0148-7299,1096-8628

DOI: 10.1002/ajmg.1320400410