This work compared genetic diagnoses in hydrops cases with and without mirror syndrome, a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops.
Abstract
Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Patau syndrome (trisomy 13) is a life‐limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease, and presumed neonatal sepsis. Clinical diagnosis was made withou...
Sayed Hussain Amiri, Nasir Ahmad Anwari, D. Hossaini et al.· Clinical Case Reports· 0 citations
A female neonate with a postnatal diagnosis of trisomy 21 developed a vesiculopustular eruption on day of life 12. Transient abnormal myelopoiesis (TAM) had been diagnosed based on circulating blasts and an acquired GATA1 variant. Bacterial and viral swabs were negative, and there was no clinical response to intravenou...
Barry Patton, L. Roche, C. O'Connor· Clincal and Experimental Der...· 0 citations
Our study investigates the impact of junction breakpoints of complex chromosomal rearrangements (CCRs) on developmental delay and intermittent epilepsy in children, aiming to elucidate the underlying genetic mechanisms.
Jia-Ci Li, W. Fan, Nan Liu et al.· Molecular Genetics & Genomic...· 0 citations
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment.
Jane Koo, Melissa Gerstle, Leah Cheng et al.· Pediatric Blood & Cancer· 0 citations
Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen‐encoding genes.