Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements
نویسندگان
چکیده
منابع مشابه
Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding screened for subtelomeric rearrangements by multiprobe fluorescence in situ hybridization (FISH). In these cases, five patients...
متن کاملAssociation of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies
Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...
متن کاملSubtelomeric Rearrangements in Patients with Recurrent Miscarriage
Objective The Subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but have also been suspected to be responsible for unexplained recurrent miscarriage (RM). We have noticed a higher risk of subtelomeric translocations in association with CA and ID. Such rearrangements can go unnoticed through con...
متن کاملDetection Of Chromosomal Instability And Subtelomeric Rearrangements In Sick Neonate And Children With Multiple Congenital Malformations
Purpose-In order to assess major chromosomal abnormalities among sick neonate with dysmorphic feature and delayed milestones in Kolkata, a chromosome aberration survey was initiated in collaboration with Dr. B. C. Roy Post Graduate Institute for Pediatric Science ( Kolkata) is in progress. MethodsIn last two years, we have screened about 120 sick neonates (Indicated cases as per clinical findin...
متن کاملSubtle chromosomal rearrangements in children with unexplained mental retardation.
BACKGROUND No explanation for moderate to severe mental retardation is apparent in about 40% of cases. Although small chromosomal rearrangements may account for some undiagnosed cases, a lack of genome-wide screening methods has made it impossible to ascertain the frequency of such abnormalities. METHODS A fluorescence in-situ hybridisation (FISH) test was used to examine the integrity of chr...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2003
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.112