Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome
نویسندگان
چکیده
منابع مشابه
Recurrent abortions and down syndrome resulting from Robertsonian translocation 21q; 21q.
AIM The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. RESULTS Analyses of cytogene...
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Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...
متن کاملMapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an em...
متن کاملA rare non-Robertsonian translocation involving chromosomes 15 and 21.
CONTEXT Robertsonian translocations (RT) are among the most common balanced structural rearrangements in humans and comprise complete chromatin fusion of the long arm of two acrocentric chromosomes. Nevertheless, non-Robertsonian translocation involving these chromosomes is a rare event. CASE REPORT We report a de novo unbalanced translocation involving chromosomes 15 and 21. The newborn was ...
متن کاملA familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.
Subtelomeric rearrangements have recently gained considerable interest through publications indicating that they may be a major cause for unexplained mental retardation and/or multiple congenital anomalies. 2 As the subtelomeric regions have the highest gene density in the genome, subtelomeric aneusomies are in general thought to have a significant effect on the phenotype. Prenatal onset of gro...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2019
ISSN: 0041-4301
DOI: 10.24953/turkjped.2019.05.020