A Triplication of 6q24 and Meconium Pseudocyst: A Case Report.

A Triplication of 6q24 and Meconium Pseudocyst: A Case Report.
Neonatal Netw. 2019 Nov 01;38(6):329-335
Authors: Mooney M, Carlson CA, Riley C
Abstract
With the rise in genetic screening both pre- and postnatally, new variances in genes are being recognized. Some are of unknown significance, while other known genetic expressions have obvious phenotypical expressions. Transient neonatal diabetes mellitus is a result of the duplication of chromosome 6q24, but little is known about the phenotypic expression of a triplication of chromosome 6q24. This case study presents an infant with a postnatally diagnosed triplication of chromosome 6q24, meconium pseudocyst, and multiple congenital anomalies with unknown genetic significance.
PMID: 31712397 [PubMed - in process]

Source: Neonatal Network - October 31, 2019 Category: Perinatology & Neonatology Authors: Mooney M, Carlson CA, Riley C Tags: Neonatal Netw Source Type: research