Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature

Abstract

A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype.

Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies

“…Regardless of their length, pure partial trisomy 1q involving or overlapping our patient's duplication has shown a broad range of prenatal and postnatal clinical manifestations [Sifakis et al, 2014]. However, a common core of clinical features including DD/intellectual disability (ID), craniofacial anomalies, and limb defects may be recognized.…”

“…Either full trisomy 1 or pure large 1q duplications (e.g., 1q11qter, 1q21qter, or 1q25qter) are seemingly not compatible with fetal development and postnatal survival [Machlitt et al, 2005;Sifakis et al, 2014]. Conversely, individuals with a pure smaller duplication (e.g., in 1q11q22, 1q12q23, 1q31q41, 1q31.1q32.1, 1q32qter, or 1q42qter) present a better chance of survival [Mertens et al, 1987;Schorry et al, 1998;Sillén et al, 1998;Percesepe et al, 2007;Balasubramanian et al, 2009;Otake et al, 2009].…”

“…Conversely, individuals with a pure smaller duplication (e.g., in 1q11q22, 1q12q23, 1q31q41, 1q31.1q32.1, 1q32qter, or 1q42qter) present a better chance of survival [Mertens et al, 1987;Schorry et al, 1998;Sillén et al, 1998;Percesepe et al, 2007;Balasubramanian et al, 2009;Otake et al, 2009]. To date, more than 200 cases with a pure partial 1q duplication with breakpoints mostly at 1q21.1, 1q25, 1q32, and 1q42 (commonest) have been documented [Percesepe et al, 2007;Balasubramanian et al, 2009;Dolcetti et al, 2013;Sifakis et al, 2014]. Approximately 20 other pure duplications (between 1 and 15 Mb in size) within or overlapping 1q21.3q23.3 have been described in the DE-CIPHER and ISCA databases [Firth et al, 2009].…”

De NovoTrisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

“…Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Affected patients present with neurological, urogenital, and congenital heart anomalies as reported by Chen et al [ 1 ], Mertens et al [ 2 ], Machlitt et al [ 3 ], Patel et al [ 4 ], and Sifakis et al [ 5 ]. Mosaicism for 1q10q23.3 duplication has only been reported once by Hirshfeld et al [ 6 ].…”