De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

Abstract

Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose.

PGD for a carrier of an intrachromosomal insertion using aCGH

“…Distal partial trisomy 1q has been previously reported in the literature and many of these patients do have significant developmental delay [Palmer et al 1977]. Other features associated with duplication of a segment of the long arm of chromosome 1 include Pierre Robin Sequence, camptodactyly, brachycephaly, developmental delay, constant flexion of the fingers of both hands, and congenital heart defects [Aboura et al 2002;Garver et al 1978;Palmer et al 1977;Pan et al 1977;Schinzel 1979]. The common region duplicated in patients in whom Pierre Robin Sequence and flexion of the fingers have been observed is the 1q25 segment, which is involved in our patient [Aboura et al 2002].…”

“…Other features associated with duplication of a segment of the long arm of chromosome 1 include Pierre Robin Sequence, camptodactyly, brachycephaly, developmental delay, constant flexion of the fingers of both hands, and congenital heart defects [Aboura et al 2002;Garver et al 1978;Palmer et al 1977;Pan et al 1977;Schinzel 1979]. The common region duplicated in patients in whom Pierre Robin Sequence and flexion of the fingers have been observed is the 1q25 segment, which is involved in our patient [Aboura et al 2002]. Intrachromosomal insertions described in the literature have most commonly been detected in a child with congenital anomalies who has a recombinant chromosome [Ardalan et al 2005;Basinko et al 2008;Burnside et al 2009;Pramparo et al 2008;Wang et al 2010;Wilson et al 2012;Xanthopoulou et al 2010].…”

“…Array CGH is an excellent tool for identifying the origin of the chromosome from which extra or lost material is derived, as well as for mapping the region involved to specific bands on the source chromosome [Aboura et al 2002]. It is also less expensive and faster than the combined use of several molecular cytogenetic methods to identify unbalanced chromosomal rearrangements [Aboura et al 2002].…”

“…It is also less expensive and faster than the combined use of several molecular cytogenetic methods to identify unbalanced chromosomal rearrangements [Aboura et al 2002]. Array CGH on blastomeres typically provides results in approximately 97-98% of cases with an accuracy for aneuploidy of 97-98% [Gutierrez-Mateo et al 2011;Mir et al 2013].…”

Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome

“…Fluorescence in situ hybridization (FISH) was performed as described previously. 19 Specific probes for 2q37 chromosomal region were used.…”