Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

2013 ◽  
Vol 161 (7) ◽  
pp. 1806-1812 ◽  
Author(s):  
Kristina Orendi ◽  
Sabine Uhrig ◽  
Monika Mach ◽  
Petra Tschepper ◽  
Michael R. Speicher
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Rearrangement ◽  
Mild Intellectual Disability ◽  
Male Adult ◽  
Complex Chromosomal Rearrangement ◽  
Trisomy 18P

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

2019 ◽  
Vol 157 (4) ◽  
pp. 220-226
Author(s):  
Yang Yu ◽  
Yuting Jiang ◽  
Xiaonan Hu ◽  
Hongguo Zhang ◽  
Ruizhi Liu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Prenatal Testing ◽  
Unknown Origin ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 15 ◽  
Derivative Chromosome ◽  
Mild Intellectual Disability ◽  
Trisomy 18P

Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

Maternal complex chromosomal rearrangement leads toTCF12microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

2014 ◽  
Vol 164 (6) ◽  
pp. 1530-1536 ◽  
Author(s):  
Pauline Le Tanno ◽  
Brice Poreau ◽  
Francoise Devillard ◽  
Gaëlle Vieville ◽  
Florence Amblard ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability

2014 ◽  
Vol 164 (10) ◽  
pp. 2685-2688 ◽  
Author(s):  
Mariana Moysés Oliveira ◽  
Vera Ayres Meloni ◽  
Rosane Seidler Canonaco ◽  
Sylvia Satomi Takeno ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Chromosomal Rearrangement ◽  
Juvenile Polyposis ◽  
Complex Chromosomal Rearrangement

scholarly journals Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

2021 ◽  
Author(s):  
Meena Balasubramanian ◽  
Alexander J. M. Dingemans ◽  
Shadi Albaba ◽  
Ruth Richardson ◽  
Thabo M. Yates ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Protein Function ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Mild Intellectual Disability ◽  
Related Disorder ◽  
Feeding Difficulties ◽  
Facial Phenotype ◽  
Novel Variants ◽  
Common Behaviour

AbstractWitteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

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