Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
BMC Medical Genomics (35pkt w roku publikacji)
ISSN
1755-8794
EISSN
Wydawca
BIOMED CENTRAL LTD
DOI
URL
Rok publikacji
2018
Numer zeszytu
1
Strony od-do
69
Numer tomu
11
Identyfikator DOI
Liczba arkuszy
Słowa kluczowe
angielski
Chromosomal abnormalities
Recurrent miscarriages
Reproductive failure
dup17p13.3 syndrome
Genetic counselling
Open access
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Creative Commons — Uznanie autorstwa
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Razem z publikacją
Data udostępnienia w sposób otwarty
2018-08-20
Streszczenia
Język
angielski
Treść
BACKGROUND: Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth. The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. Therefore, classical chromosome analysis with GTG technique still plays an important role in the identification of balanced rearrangements in every case of procreation failure. CASE PRESENTATION: In this article, a family with multiple occurrences of 17p13.3 duplication syndrome in the offspring and multiple miscarriages resulting from carrying of the balanced reciprocal translocation t(7;17)(p22;p13.2) by proband father is presented. The aCGH diagnostics allowed the identification of an unbalanced fragment responsible for the occurrence of clinical signs in the female patient, while karyotyping and FISH using specific probes allowed the localization of the additional material in the patient chromosomes, and identified the type of this translocation in the carriers. CONCLUSIONS: Identification of a balanced structural aberration in one of the partners allows direct diagnostics for the exclusion or confirmation of genetic imbalance in the foetus via traditional invasive prenatal diagnostics. It is also possible to use an alternative method, Preimplantation Genetic Diagnosis (PGD) after in vitro fertilization, which prevents initiating pregnancy if genetic imbalance is detected in the embryo.
Cechy publikacji
artykuł w czasopiśmie zagranicznym
praca kazuistyczna
case report
zrecenzowany naukowo
Inne
System-identifier
PX-5c77a2d6d5de0a8767356a82
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