Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Quēlin, Chloé; Bendavid, Claude; Dubourg, Christèle; Rochebrochard, Céline de La; Lucas, Josette; Henry, Cathérine; Jaillard, Sylvie; Loget, Philippe; Lœuillet, Laurence; Lacombe, Didier; Rival, Jean-Marie; David, Véronique; Odent, Sylvie; Pasquier, Laurent

doi:10.1016/j.ejmg.2008.10.002

Cited by 79 publications

(100 citation statements)

References 20 publications

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“…Most of the clinical manifestations described in our patient are known to occur in both trisomy 3p and monosomy 13q syndromes, individually. Other phenotype manifestations are compatible with the clinical alterations related to 3p trisomy patients (Reiss et al, 1986;Chen et al, 2008;Ginocchio et al, 2008;Tan et al, 2011;Han et al, 2012), and some are related to 13q monosomy (Schinzel, 1983;Brewer et al, 1998;Brooks et al, 2006;Ballarati et al, 2007;Quélin et al, 2009), as shown in Tables 1 and 2. The partial 13q monosomy commonly produces malformations such as microcephaly, ear abnormalities, retrognathia, hypertelorism, palate fissures, hypotonia, and skeletal abnormalities, as well as psychomotor development delay and heart defects ( Table 1). The partial 3p trisomy has been known as a syndrome with multiple congenital abnormalities and intellectual deficiency, characterized by micrognathia, short neck, hypertelorism, large mouth with downturned angles, prominent philtrum, speech delay, congenital heart disease, and neuropsychomotor retardation.…”

Section: Case Reportsupporting

confidence: 62%

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Doriqui¹,

Freitas²,

Pinho³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter→13q34::3p24→3pter) pat. Karyotype analysis of the father demonstrated a balanced translocation, 46,XY,t(3;13)(p24;q34), indicating the inheritance of the derivative chromosome 13. The mother karyotype was normal. We suggest that most of the structural malformations seen in this patient are due to the 3p trisomy, while the neuropsychomotor alterations are a consequence of both chromosome aberrations.

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Section: Case Reportsupporting

confidence: 62%

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Doriqui¹,

Freitas²,

Pinho³

et al. 2013

Genet. Mol. Res.

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“…Mutations in the GPC6 gene have been implicated in omodysplasia and heart disease. Mouse models have shown expression of both GPC5 and GPC6 in developing limbs (Quélin et al, 2009). Our patient exhibits generalized overgrowth and developmental delay that agrees with the findings of Bachmann-Gagescu et al (2010), but is in contrast to the severe obesity noted in the cases reported by Bochukova et al (2010).…”

Section: Patient Materials and Methodssupporting

confidence: 86%

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth

George¹,

Taylor²,

Love³

2012

Genet. Mol. Res.

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ABSTRACT. Chromosome microarray analysis of patients with developmental delay has provided evidence of small deletions or duplications associated with this clinical phenotype. In this context, a 7.1-to 8.7-Mb interstitial deletion of chromosome 16 is well documented, but within this interval a rare 200-kb deletion has recently been defined that appears to be associated with obesity, or developmental delay together with overgrowth. We report a patient carrying this rare deletion, who falls into the latter clinical category, but who also carries a second very rare deletion in 13q31.3. It remains unclear if this maternally inherited deletion acts as a second copy number variation leading to pathogenic variation, or is non-causal and the true modifiers are yet to be determined.

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“…Kirchhoff et al [2009] correlated the microcephaly phenotype to the ∼ 6-Mb terminal 13q region, between 13q33.3 and 13q34. In most patients reported by Ballarati et al [2007] and Quelin et al [2009] who had terminal deletions, microcephaly was observed. Mapped in 13q34, the ARHGEF7 gene, known to play a role in the development of human cerebral cortex [Sheen et al, 2004], was suggested as a candidate gene for psychomotor developmental delay and microcephaly [Walczak-Sztulpa et al, 2008].…”

Section: Microcephalymentioning

confidence: 96%

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

et al. 2019

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Patients with deletion of chromosome 13 present with variable clinical features, and the correlation between phenotype and genomic aberration is not well established in the literature, mainly due to variable sizes of the deleted segments and inaccuracy of breakpoint mapping. In order to improve the genotype-phenotype correlation, we obtained clinical and cytogenomic data from 5 Brazilian patients with different chromosome 13 deletions characterized by G-banding and array techniques. Breakpoints were nonrecurrent, with deletion sizes ranging from 3.8 to 43.3 Mb. Our patients showed some classic features associated with 13q deletion, independent of the location and size of the deletion: hypotonia, growth delay, psychomotor developmental delay, microcephaly, central nervous system anomalies, and minor facial dysmorphism as well as urogenital and limb abnormalities. Comparisons between the literature and our patients' data allowed us to narrow the critical regions that were previously reported for microphthalmia and urogenital abnormalities, indicating that gene haploinsufficiency of ARHGEF7, PCDH9 and DIAPH3, of MIR17HG and GPC6, and of EFNB2 may contribute to microcephaly, cardiovascular disease, and urogenital abnormalities, respectively. The knowledge about genes involved in the phenotypic features found in 13q deletion patients may help us to understand how the genes interact and contribute to their clinical phenotype, improving the patient's clinical follow-up.

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Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Cited by 79 publications

References 20 publications

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

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