A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

Fonseca, Dora Janeth; Quiroga, Carlos Fernando Prada; Siza, Luz Miriam; Angel, Diana; Gómez, Yenny; Restrepo, Carlos Martín; Douben, Hannie; Rivadeneira, Fernando; Klein, Annelies de; Laissue, Paul

doi:10.1002/ajmg.a.35215

Cited by 7 publications

(5 citation statements)

References 24 publications

(41 reference statements)

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“…We have found only two patients with a deletion similar to our case: patient 1, reported by Santen et al [2012], and patient 3, described by Dale et al [2012], while all other cases showed larger or smaller deletions [Shapira et al, 1994;Kamnasaran et al, 2001;Caliebe et al, 2011;Torgyekes et al, 2011;Fonseca et al, 2012;Piccione et al, 2012;Santen et al, 2012;Hayashi et al, 2015]. The two patients, respectively 7 and 1.5 years old, have hypothyroidism, movement disorders (chorea), hypo/oligodontia, and normal growth.…”

Section: Discussionsupporting

confidence: 75%

“…Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder, caused by an interstitial deletion of the long arm of chromosome 14 with variable breakpoints. The deletion has been described as a contiguous gene syndrome in several reports [Shapira et al, 1994;Kamnasaran et al, 2001;Caliebe et al, 2011;Fonseca et al, 2012;Piccione et al, 2012;Santen et al, 2012]: FOXG1, NKX2-1, and PAX9 have been identified as the candidate dosage-sensitive key genes of clinical significance, while the role of other genes (i.e., GARNL1/TULIP1, NKX2-8, SLC25A21) is still debated.…”

Section: Introductionmentioning

confidence: 99%

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14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype

Gentile

Mattia

Pansini

et al. 2016

American J of Med Genetics Pt A

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Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. By array-CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11-q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses NKX2-1, but not FOXG1 gene and HPE8 region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. © 2016 Wiley Periodicals, Inc.

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Section: Discussionsupporting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype

Gentile

Mattia

Pansini

et al. 2016

American J of Med Genetics Pt A

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“…Existing descriptions of 14q12q13.3 microdeletion are those reported by Fonseca et al 19) and Ponzi et al 1) , and we compar ed the clinical manifestations with these cases ( Table 1). Fonseca et al 19) reported various symptoms including growth and develop mental delays. In this case, EEG showed abnormal focal theta semirhythmic activity, and there were no abnormal findings on brain MRI 19) .…”

Section: Discussionmentioning

confidence: 87%

“…Fonseca et al 19) reported various symptoms including growth and develop mental delays. In this case, EEG showed abnormal focal theta semirhythmic activity, and there were no abnormal findings on brain MRI 19) . Further, the present case had a large deletion that resulted in a wide array of symptoms with severe developmental and growth delay compared to previous cases.…”

Section: Discussionmentioning

confidence: 99%

14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Kwon¹,

Song²,

Yoon³

et al. 2020

Neonatal Med

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“…Most patients with this chromosomal abnormality share common clinical manifestations, such as microcephaly, micrognathia, broad nasal bridge, ear anomalies, hypotonia, developmental delay, congenital heart defects and agenesis of corpus callosum . So far, only 27 patients with proximal interstitial deletion of chromosome 14q11-q22 have been reported, including siblings and prenatally diagnosed cases [2][3][4][5][6][7][8][9][10][11][12][14][15][16][17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

Bogliș

Dana

Moldovan

et al. 2016

Acta Medica Marisiensis

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Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.

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A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

Cited by 7 publications

References 24 publications

14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype

14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype

14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

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