15q24 Duplication: A Case Report of Neurodevelopmental Delay.

Chromosomal rearrangements are structural anomalies that affect chromosomal architecture and can impact gene expression, genomic imprinting, or even generate de novo gene fusions, as seen in hematological chromosomal aberrations. Chromosomal rearrangements can be associated with syndromes causing neurodevelopmental delay, autism spectrum disorder, and variable dysmorphic features. This article presents the clinical and molecular characteristics of a 2-year-old male child with neurodevelopmental delay who was diagnosed with a chromosomal rearrangement due to a 15q24 duplication (dup15q24).

Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.

Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next-generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs.

Case Report: Congenital Arthrogryposis and Unilateral Absences of Distal Arm in Congenital Zika Syndrome.

Zika virus was recognized as a teratogen in 2015, when prenatal Zika infection was associated with neonatal microcephaly. The transmission, virulence, tropism, and consequences of Zika virus infection during pregnancy are currently studied. Decreased neural progenitor cells, arrest in neuronal migration and/or disruption of the maturation process of the fetus central nervous system have been associated.

Birth Defects Associated With Congenital Zika Virus Infection in Mexico.

Part of the work agenda of international health authorities is to define the clinical spectrum of the congenital Zika syndrome (CZS) in different territories. We describe the clinical variability that gave rise to the suspicion of CZS in 3 newborn patients in the south of Mexico with active transmission of Zika. All of them presented Zika RNA by reverse transcription-polymerase chain reaction and positive antibodies for IgM by enzyme-linked immunosorbent assay.

Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.

Objective: To use the results of the first five years of a cystic fibrosis newborn screening program to estimate the cystic fibrosis birth prevalence and spectrum of cystic fibrosis transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico.

Methods: Screening was performed from 2010 to 2015, using two-tier immunoreactive trypsinogen testing, followed by a sweat test. When sweat test values were >30 mmol/L, the CFTR gene was analyzed.

Frequency of deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.

Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality in the most severe forms of the disease. In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 () gene, and both parents carry the same heterozygous genetic abnormality in the majority of cases. Various population studies have been conducted to estimate the frequency of carriers and thereby identify the communities or countries in which children are at a high risk of being affected by SMA.