A rare sex chromosome aneuploidy: 48,XXYY syndrome

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Sex Chromosome Aneuploidy: Prospective Studies on Children

This two-volume publication contains the proceedings of a NATO Advanced Study Institute, held in April 1978. The material is organized in five sections. In the first section J. Bonner presents a historic review of chromatin research. The following section describes biophysical and chemical methods used in the study of isolated chromatin, such as electron microscopy, circular dichroism, X-ray di...

متن کامل

Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins: case report.

The meiotic or mitotic origin of most cases of Turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for Turner syndrome of paternal origin. The paternal origin of the single X chromosome was determined by polymerase chain reaction (PCR) a...

متن کامل

Children with Sex Chromosome Aneuploidy: Follow-Up Studies

The third chapter reviews the pharmacologic properties of antiplatelet drugs and the antiplatelet effects of drugs used in general medical practice. The drugs discussed include aspirin, non-steroidal anti-inflammatory agents, sulfinpyrazone, prostaglandins PGE1 and PGI2, dipyridamole, and other pyridamole-pyrimidine compounds. Especially helpful is a section on the effects of anesthetics, major...

متن کامل

Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.

Numeric sex chromosome imbalances, or aneuploidies, are present in several pathological conditions including tumors, abnormal gestations, and clinical syndromes. Here we report a method to identify karyotypic imbalances of the X and Y chromosomes using the polymerase chain reaction (PCR). The polymerase chain reaction was used to quantitatively coamplify the sex chromosome linked genes ZFX and ...

متن کامل

Effect of gonadotropins on chromosome aneuploidy, chromosome mosaicism & sex ratio in mouse preimplantation embryos.

BACKGROUND & OBJECTIVE There are potential risks of major birth defect in IVF (in vitro fertilization) pregnancy as well as IVF-ICSI (intra cytoplasmic sperm injection) pregnancies in comparison with naturally conceived human pregnancies. This increase risk could be due to either gonadotropins used for ovarian stimulation or in vitro culture conditions or multiple pregnancy or combinations of a...

متن کامل

ذخیره 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: Türk Pediatri Arşivi

سال: 2016

ISSN: 1306-0015,1308-6278

DOI: 10.5152/turkpediatriars.2016.1551