A complex balanced rearrangement involving four chromosomes in an azoospermic man.
نویسندگان
چکیده
A complex chromosomal rearrangement involving chromosomes 1, 5, 10, and 12 is described. The patient was an infertile, phenotypically normal male. Cytogenetic analyses of his parents showed that the complex translocation arose de novo. Testicular histology showed spermatogenic arrest.
منابع مشابه
P-223: Analysis of Synaptonemal Complex Gene Disorders Involving in Recurrent Spontaneous Abortion
Background: Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Maternally age, previous spontaneous abortion, prolonged ovulation to implantation, Gravidity, Interval Prolonged time to pregnancy, Balanced chromosomal translocations and Genetic disorders. The aim of this study was t...
متن کاملPartial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.
A balanced complex chromosome rearrangement (CCR) involving four chromosomes is very rare and may lead to different types of aneuploid germ cells. We report a liveborn child with multiple congenital anomalies and an apparently balanced translocation, t(11;12). High resolution chromosome analysis in the mother showed a CCR involving chromosomes 5, 11, 12, and 16. In situ hybridisation showed tha...
متن کاملA de novo Complex Chromosomal Rearrangement of 46,XX,t(7;15;13)(p15;q21;q31) in a Female with an Adverse Obstetric History
Complex chromosomal rearrangements (CCRs) are rare structural rearrangements involving three or more chromosomes. Balanced CCRs are often seen in phenotypically normal females who may later present with fertility problems. We report a 25-year old female with an adverse obstetric history and a de novo CCR involving chromosomes 7, 13 and 15 detected after GTG-banding. The de novo origin was confi...
متن کاملA de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.
OBJECTIVE To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. DESIGN Case report with a review of the literature. SETTING Academic research environment. PATIENT(S) A man with oligospermia but otherwise apparently healthy. INTERVENTION(S) Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by ...
متن کاملComplex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in fami...
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 22 1 شماره
صفحات -
تاریخ انتشار 1985