Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

2010 ◽  
Vol 155 (1) ◽  
pp. 203-206 ◽  
Author(s):  
Sultan Cingöz ◽  
Iben Bache ◽  
Lise Bjerglund ◽  
Hans-Hilger Ropers ◽  
Niels Tommerup ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Male Patient ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Interstitial Deletion

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

scholarly journals Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Euthymia Vargiami ◽  
Athina Ververi ◽  
Hamda Al-Mutawa ◽  
Georgia Gioula ◽  
Spyridon Gerou ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Dysmorphic Features ◽  
Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

scholarly journals Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

2016 ◽  
Vol 98 (6) ◽  
pp. 1235-1242 ◽  
Author(s):  
Lia Boyle ◽  
Mirjam M.C. Wamelink ◽  
Gajja S. Salomons ◽  
Birthe Roos ◽  
Ana Pop ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

2016 ◽  
Vol 150 (2) ◽  
pp. 112-117 ◽  
Author(s):  
Liyang Liang ◽  
Yingjun Xie ◽  
Yiping Shen ◽  
Qibin Yin ◽  
Haiming Yuan
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Limb Anomalies ◽  
Interstitial Duplication

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome.

scholarly journals Congenital Rubella Infections among the Pregnant Women at a Tertiary Care Hospital in Karachi, Pakistan

2020 ◽  
pp. 41-45
Author(s):  
Madiha Sattar ◽  
Urooj Ibrahim ◽  
Sehrish Ilyas ◽  
Safia Bibi ◽  
Ghulam Fatima
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Tertiary Care Hospital ◽  
Heart Defects ◽  
Tertiary Care ◽  
Care Hospital ◽  
Rubella Infection ◽  
Congenital Rubella ◽  
National Immunization

Introduction: Rubella virus is an important human pathogen that causes an acute and contagious disease known as rubella and also, causes congenital rubella syndrome more commonly occur during the first trimester of pregnancy. The incidence of CRS varies in different populations and the highest burden found in developing countries where rubella vaccination is not included in their national immunization programs. Therefore, the aim of this study was to determine the burden of CRS-related birth defects and its incidence in the pre-vaccine era in Karachi Pakistan. Objective: The aim of the study to determine the rate of congenital rubella infection among the pregnant women at a Tertiary Care Hospital. Methods: The retrospective descriptive cross sectional study was conducted in different departments of Dr Ruth PFAU Civil Hospital Karachi, including Eye OPD and Pediatric units from Jan 2016 till December 2019. The medical records of clinically suspected infants or confirmed cases were reviewed. The confirmed cases were positive for maternal IgM rubella antibodies and tested by ELISA (Enzyme Linked immunosorbant assay) where as the rubella IgM antibodies in suspected infants were lost to follow. Inclusion criteria were infants admitted less than or equal to 1 year of age with history of either congenital cataract, congenital glaucoma, pigmented retinopathy, congenital heart defects like (patent ductus arteriosus, periphery pulmonary stenosis, ventricular septal defects), hearing impairment, deafness or microcephaly were included in the study. Results: Out of total 142 infants that were admitted in the hospital during 4 years period from 2016 to 2019 only 7 (4.93%) infants were diagnosed as confirmed cases of congenital rubella infection where as 14 (9.86%) infants were found to be clinically suspected. The ocular manifestation were more common among 6 infants which presented with cataract (85.7%) and 2 infants presented with pigmented retinopathy (28.6%). Besides this other manifestations like developmental delay were seen in only 2 patients DD (28.6%) and 3 infants presented with congenital heart diseases CHD (42.9%). The combinations of clinical features of congenital heart defect with cataract and developmental delay were seen in only 1 infant whereas cataract with pigmented retinopathy and developmental delay was seen in 1 infant and 2 infants presented with combination of congenital heart defects and cataracts. Conclusion: Our study reported the rate of congenital rubella infection was 4.93% in a four years study period. Therefore, with a rising trend in congenital rubella infections in the last past years there is a need to built strong surveillance system and to introduce a childhood immunization in the national immunization program to eliminate the Rubella infection.

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