نتایج جستجو برای: chromosome abnormality

تعداد نتایج: 257024  

Akbar Safaei Hossein Ayatollahi, Mohammad Vasei

  Background and Objectives: Primary amenorrhea is not a disease but a symptom that may result from several quite different causes[NN1] . Common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. The aim of this study was to estimate the incidence of the chromosomal abnormality referred ...

Journal: :Human reproduction 1999
J C Giltay P M Kastrop J H Tuerlings J A Kremer C H Tiemessen K B Gerssen-Schoorl F van der Veen J de Vries R Hordijk G J Hamers K Hansson M van der Blij-Philipsen L C Govaerts M H Pieters K Madan J M Scheres

A follow-up study was performed to investigate the impact of the detection of a chromosome abnormality in infertile men who are candidates for intracytoplasmic sperm injection (ICSI) treatment. In this collaborative study between clinical genetics centres and fertility clinics in the Netherlands, 75 ICSI couples of which the male partners had a chromosome abnormality were included. All couples ...

Journal: :Blood 1979
D G Roth M C Cimino D Variakojis H M Golomb J D Rowley

An adult patient with acute lymphoblastic leukemia associated with a 14q+ marker chromosome is presented. The abnormality resulted from a translocation of material from the long arm of chromosome 11. The leukemic cells were found to be B cells on the basis of surface immunoglobulins, lack of receptors for sheep erythrocytes, and a characteristically low level of adenosine deaminase activity. In...

2013
Daniela Ribeiro Ney Garcia Alejandro Mauricio Arancibia Raul C. Ribeiro Marcelo Gerardin Poirot Land Maria Luiza Macedo Silva

Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly d...

2011
Farkhondeh Behjati Saghar Ghasemi Firouzabadi Kimia Kahrizi Roxana Kariminejad Iman Bagherizadeh Javad Ansari Masoumeh Fallah Forough Mojtahedi Hossein Darvish Gholamreza Bahrami Monajemi S. Sedigheh Abedini Payman Jamali Faezeh Mojahedi Azita Zadeh-Vakili Hossein Najmabadi

INTRODUCTION Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with posi...

2005
J. D. Rowley

The close association of specific chromosome abnormalities with particular types of human cancer has been established by a number of investigators during the past decade [1-6]. A few of the genes involved in consistent chromosome rearrangements, notably translocations, have already been identified, and it is likely that the identity of most of the genes affected by these aberrations will be det...

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