We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.

Congenital glucose-galactose malabsorption (CGGM) is a rare metabolic disorder caused by a deficient intestinal sodium-dependent glucose cotransporter (SGLT1) protein. Its failure leads to a lack of absorption of galactose, glucose, and sodium, which remains inside the intestinal lumen. The consequence of that involves, among other things, dehydration and diarrhea on neonatal onset. The basic treatment consists of diet management. A 6-month-old Brazilian infant with CGGM caused by a one base pair deletion on SLC5A1gene, in both alleles, causing a frameshift mutation and, consequently, a deleterious impact on the terminal protein portion is, for the first time, characterized here. Besides the common disease aspects, the child presented Necrotizing Enterocolitis (NEC), a new outcome for his condition. The fact that a non-consanguineous couple could produce a child with a recessive disease is puzzling. However, we were able to correlate all symptoms, including NEC, to the disruption of the protein terminal portion, based on literature review. This article brings a new point of view on disease report; putting together the social aspects, clinical examination, laboratory trials, genetic diagnostic, protein assemble and literature research in order to fulfill the patient history. This process allows us to improve the understanding of the disease mechanism, perform targeted genetic counseling and institute appropriate treatment using an adequate diet through nutritional guidance and surveillance.

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.

Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS).

Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome. Furthermore, we aim to establish a gene-phenotype association.

Objective: To evaluate the effects of an unbalanced inheritance in a patient, while investigating and elucidating family history. Case description: This is a case report of a patient carrying an unbalanced combination consisting of a partial trisomy of 1q42.1 and a microdeletion in 8q24.3, resulting from the segregation of the familial balanced reciprocal translocation between chromosomes 1 and 8. Comments: A genetic investigation was carried out in the family, elucidating the segregation mechanisms, possible outcomes, and inheritance lineage of this balanced translocation and its unbalanced forms. This case report was the first involving these two specific chromosomal regions.