Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

Chen, Chih‐Ping; Lee, Chen‐Chi; Chang, Tung-Yao; Town, Dai-Dyi; Wang, Wayseen

doi:10.1002/pd.794

Cited by 33 publications

(25 citation statements)

References 33 publications

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“…The high-arched palate that we observed in this case was also described in another case by Guć-Sćekić et al (1989). Facial dysmorphism and camptodactyly in our case was observed by Chen et al (2004) in a patient with the karyotype 46,XX, del(11)(q24.1). It is difficult to define a distinctive phenotype in 11q partial monosomy as the phenotype depends on haploinsufficient genes.…”

Section: Discussionsupporting

confidence: 60%

De novo interstitial deletion in the long arm of chromosome 11: a case report

Zhang

Shao³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, higharched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.

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Section: Discussionsupporting

confidence: 60%

De novo interstitial deletion in the long arm of chromosome 11: a case report

Zhang

Shao³

et al. 2016

Genet. Mol. Res.

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“…According to our observation of the prenatal phenotype in 11qter deletion cases, hyperechogenic bowel should be appended to the previously described features: Thickening of the NT [McClelland et al, 1998], growth retardation, and shortening of the femurs and humeri [Wax et al, 1995;Chen et al, 2002;Chen et al, 2004]. Moreover, our data show that the size of the deletion is not critical for the severity of the phenotype.…”

Section: Discussionmentioning

confidence: 47%

“…The expansion of array technologies in the last few years has permitted the precise characterization of the deletions and detailed genotype/phenotype correlations in postnatal cases of JBS. [Penny et al, 1995;Wax et al, 1995;Chen et al, 1997;McClelland et al, 1998;Porter et al, 1999;Chen et al, 2002;Favier et al, 2003;Chen et al, 2004;Grossfeld et al, 2004;Boehm et al, 2006] …”

Section: Discussionmentioning

confidence: 99%

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SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Trková

Bečvářová

Hynek

et al. 2012

American J of Med Genetics Pt A

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Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.

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“…We nonetheless observed 26 abnormal karyotypes among the 223 fetuses with this isolated marker. In a review of the literature, Chen et al [13] showed that increased nuchal translucency may be a sonographic manifestation of some uncommon numerical aneuploidies and also a first-trimester feature of some uncommon structural aneuploidies [14] .…”

Section: Minor Anomaliesmentioning

confidence: 99%

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

et al. 2011

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Objectives: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis. Methods: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities. Results: Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1). Conclusions: Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.

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Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

Cited by 33 publications

References 33 publications

De novo interstitial deletion in the long arm of chromosome 11: a case report

De novo interstitial deletion in the long arm of chromosome 11: a case report

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

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