Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
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چکیده
منابع مشابه
Association 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 کاملAn interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.
An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any informatio...
متن کاملThe Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype ana...
متن کاملAssociation of citalopram with congenital anomalies: A meta-analysis
OBJECTIVE The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2005
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.30562