Developmental Abnormalities Associated with a Ring Chromosome 6
نویسندگان
چکیده
منابع مشابه
A human ring D chromosome associated with multiple congenital abnormalities.
239 sulted in 2 normal living children. The 3rd pregnancy resulted in a spontaneous abortion. Her last pregnancy at the age of 29 years resulted in a child with Down's syndrome. The child had 47 chromosomes with trisomy 21. The patient also has 47 chromosomes with a triple X karyotype. About 200% of her buccal cells contain 2 chromatin bodies. The patient's husband is physically and mentally no...
متن کاملRing Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کاملSevere 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...
متن کاملCongenital malformations associated with a ring 4 chromosome.
Ring chromosomes in man have been described not only as interesting phenomena associated with irradiation and neoplasia (Levan, 1956; Tough et al., 1960; Bender and Gooch, 1962; Jensen, 1966) but also as a probable cause of congenital malformations (Palmer, Fareed, and Merritt, 1967). In the cases of congenital malformations so far ascribed to ring chromosomes, the B group has been involved onl...
متن کاملMultiple 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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1973
ISSN: 1468-6244
DOI: 10.1136/jmg.10.3.299