Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation

Manolakos, Emmanouil; Vetro, Annalisa; Kefalas, Konstantinos; Thomaidis, Loretta; Aperis, Georgios; Sotiriou, Sotirios; Kitsos, George; Merkaš, Martina; Sifakis, Stavros; Papoulidis, Ioannis; Liehr, Thomas; Zuffardi, Orsetta; Petersen, Michael B.

doi:10.1002/ajmg.a.33981

Cited by 8 publications

(7 citation statements)

References 24 publications

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“…Microarray analysis. Array-CGH analysis was conducted on DNA from CVS using a SurePrint G3 Human GE 8x60k, Oligo Microarray kit that has a backbone resolution of ~200 kb (Agilent Technologies, Santa Clara, CA, USA), as described in a previous study (7). The statistical analysis, using aberration detection method-2 [aberration filter/threshold set at 6 and annotation genomic build NCBI37 (NCBI, Bethesda, MD, USA)], revealed a 334-kb deletion in the long arm of chromosome 1, (Fig.…”

Section: Case Reportmentioning

confidence: 99%

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Papoulidis

Oikonomidou

Orrù

et al. 2013

Molecular Medicine Reports

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Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array‑comparative genomic hybridization, and a 5' untranslated region (UTR) low‑frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.

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Section: Case Reportmentioning

confidence: 99%

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Papoulidis

Oikonomidou

Orrù

et al. 2013

Molecular Medicine Reports

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“…At least 20 metaphases were analyzed per case, revealing a male karyotype with terminal deletion of the short arm of one of chromosome 4 [46, XY, del(4)(p15.33)] in case 1, and a female karyotype with terminal deletion of the short arm of one of chromosome 4 [46, XY, del(4)(p15.31)] in case 2. a-CGH was done on DNA from cultured amniocytes to characterize the extent of the deletions using a 100 kb resolution array (kit 44 K) in case 1 and a 40 kb resolution (kit 180 K) in case 2. Molecular karyotyping was carried out through oligonucleotide array-CGH platforms (Agilent Technologies, Santa Clara, CA) as described elsewhere [9]. …”

Section: Cases Presentationmentioning

confidence: 99%

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

et al. 2012

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Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

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“…Molecular karyotyping was carried out through oligonucleotide array-CGH platforms (Agilent Technologies, Santa Clara, CA) as described elsewhere [15]. The positions of oligomers refer to the Human Genome February 2009 (versions GRCh37, hg19) assembly.…”

Section: Methodsmentioning

confidence: 99%

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

Manolakos

Kefalas²,

Vetro

et al. 2013

Mol Cytogenet

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BackgroundThe 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wide spectrum of clinical manifestations. The majority of reports of 4q- cases are associated with large deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with 4q- phenotype.ResultsHerein we report two prenatal cases of 4qter deletions which presented the first with no sonographic findings and the second with brain ventriculomegaly combined with oligohydramnios. Standard karyotyping demonstrated a deletion at band q35.1 of chromosome 4 in both cases. The application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect.ConclusionsWe provide a review of the currently available literature on the prenatal diagnostic approach of 4q- syndrome and we compare our results with other published cases. Our data suggest that the identification and the precise molecular characterization of new cases with 4q- syndrome will contribute in elucidating the genetic spectrum of this disorder.

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Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation

Cited by 8 publications

References 24 publications

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

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