Inherited pericentric inversion of chromosome number two: a linkage study.
نویسندگان
چکیده
Pericentric inversion has been suggested as one possible explanation for an abnormally located, human somatic cell autosomal centromere in twenty-one instances (reviewed in Jacobs et al. 1967; see also Summitt & Atnip, 1966; Nance & Engel, 1967; Schmid, 1967; and Soudek, Laxovh & AdBmek, 1968). Five of these cases involved chromosome no. 2: three were found in individuals with various abnormalities (mild mental retardation and multiple congenital anomalies, DeGrouchy et al. 1963 ; mild mental retardation and hypogonadism, Miller, 1966, cited in Cohen, 1967; severe mental retardation and features of the de Lange syndrome, Breg, 1966, cited in Cohen, 1967) and two in normal individuals (Carr, 1962; Summitt & Atnip, 1966). Summitt and Atnip also reported that the abnormal no. 2 chromosome occurred in the normal mother of the propositus and in two of her five normal siblings. In this paper we report the occurrence, inheritance, segregation and genetic linkage relations of an abnormal number 2 chromosome. The most likely explanation for the abnormality is that it results from an asymmetric pericentric inversion, although formal proof of this is lacking. This is the &st report of a study in which a cytologically recognizable abnormality of the number 2 chromosome was used to determine whether any one of the genetic loci controlling a number of serum proteins, red cell enzymes and red cell antigens is located on this chromosome.
منابع مشابه
Inherited pericentric inversion of a human Y chromosome in trisomic Down's syndrome.
Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...
متن کاملResults of Blood Chromosome Analyses in All Family Members
Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...
متن کاملGoldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملFamilial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
We report on two infertile brothers presenting with severe oligozoospermia or azoospermia. Testicular biopsy was performed on one of them and showed spermatogenic arrest at the level of primary spermatocytes. Both brothers were found to be heterozygous for a pericentric inversion of chromosome 1 (46,XY,inv(1)(p34q23)). The inversion chromosome was inherited through the maternal line, with no in...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Annals of human genetics
دوره 33 1 شماره
صفحات -
تاریخ انتشار 1969