A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

2015 ◽  
Vol 167 (9) ◽  
pp. 2042-2051 ◽  
Author(s):  
Vincenzo Salpietro ◽  
Martino Ruggieri ◽  
Kshitij Mankad ◽  
Gabriella Di Rosa ◽  
Francesca Granata ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Growth Failure ◽  
Joint Laxity ◽  
Cerebellar Vermis ◽  
Heart Defect

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

2018 ◽  
Vol 154 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Beata Aleksiūnienė ◽  
Egle Preiksaitiene ◽  
Aušra Morkūnienė ◽  
Laima Ambrozaitytė ◽  
Algirdas Utkus
Keyword(s):  
Intellectual Disability ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Molecular Karyotyping ◽  
Pcr Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Protein Coding ◽  
Heart Defect

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features.

scholarly journals A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature

2019 ◽  
Vol 32 (9) ◽  
pp. 1027-1030 ◽  
Author(s):  
Odile Gaisl ◽  
Daniel Konrad ◽  
Pascal Joset ◽  
Mariarosaria Lang-Muritano
Keyword(s):  
Diaphragmatic Hernia ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Neonatal Diabetes ◽  
Short Review ◽  
Review Of The Literature ◽  
Mild Phenotype ◽  
Heart Defect

Abstract GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. Children with congenital heart defects and neonatal diabetes were already described in 1970. GATA6 variants can be due to de novo variants or due to inherited variants. To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 variant (c.1291C > T p.[Gln431*]) in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early-onset scoliosis. The same variant was also present in the mother. At the age of 3 years, a random evaluation revealed a hemoglobin A1c (HbA1c) level of 7.8% (62 mmol/mol) without any diabetes-related symptoms. He was started on insulin therapy and HbA1c normalized. A short review of the literature of hereditary cases of the GATA6 variant revealed the variable phenotypic spectrum and showed that patients with a mild phenotype are likely to have children with a more severe phenotype.

De novo 4q duplication/deletion in a fetus with a congenital heart defect

2015 ◽  
Vol 167 (8) ◽  
pp. 1932-1936
Author(s):  
Manal Dayem-Quere ◽  
Fabienne Giuliano ◽  
Christophe Massol ◽  
Marjorie Piche ◽  
Véronique Paquis-Flucklinger ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defect

Congenital heart defect in sibs with discordant karyotypes

1998 ◽  
Vol 80 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Maria Cristina Digilio ◽  
Bruno Marino ◽  
Salvatore A. Canepa ◽  
Umberto Borzaga ◽  
Aldo Giannotti ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Heart Defect
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