Human dicentric Y chromosomes. Case report and review of the literature.
نویسندگان
چکیده
ture yielded 15 additional cases of dicentric Y chromosomes. Among the cases, a wide range ofvariation in phenotype, external genitalia, histology, and chromosomal findings was observed. Factors possibly contributing to such variability are discussed and include: the exact site of breakage and exchange in the Y chromosome; the timing of dicentric formation (meiotic vs mitotic); the occurrence of non-disjunction; and the presence or absence of a Y chromosome in cells of the gonadal anlage during a critical ontogenic period.
منابع مشابه
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature
Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated wi...
متن کاملA case report and brief review of the literature of an unusual vascular malformation: linear verrucous hemangioma
Verrucous hemangiomas (VH) are uncommon, congenital vascular malformations of the cutaneous and subcutaneous tissues that spare the deeper subfacial structures. VH usually presents at birth and slowly grows with age. It usually presents as hyperkeratotic, scattered, bluish-red plaques or nodules of various sizes. Although the lesions mostly have a linear pattern, serpiginous and reticulat...
متن کاملIsolated Primary Hydatid Disease of Omentum; Report of a Case and Review of the Literature
Hydatid disease, most commonly caused by the larval stage of Echinococcus granulosus, affects mainly human liver and lung, and rarely other parts of the body. It is prevalent in most sheep-raising Mediterranean Countries including Iran. Peritoneal hydatid cyst, either primary or secondary, represents an uncommon but significant manifestation of the disease. The present case report describes a c...
متن کاملPyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature
Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and...
متن کاملKeratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints 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:
- Journal of medical genetics
دوره 10 1 شماره
صفحات -
تاریخ انتشار 1973