A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2.

The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA.

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Objective: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose because of tissue-limited mosaicism. This study aimed to further characterize the prenatal and post-natal findings associated with this anomaly, including the first reported chromosomal microarray finding.

Method: This is a retrospective study of six cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY, diagnosed both prenatally and post-natally.

Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.

Recurrent 2.65 Mb deletions of 8q13.2q13.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

We describe a female infant with complex craniosynostosis, significant craniofacial dysmorphism and developmental delay in which a de-novo apparently balanced translocation between chromosomes 7 and 18 [46,XX,t(7;18)(p15.3;q11.2)] was identified.