Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

Schneider, Anouck; Benzacken, Brigitte; Guichet, Agnès; Verloes, Alain; Bonneau, Dominique; Collot, Nathalie; Dastot-Le-Moal, Florence; Goossens, Michel; Taine, Laurence; Landais, Emilie; Gaillard, Dominique; Doco‐Fenzy, Martine

doi:10.1038/sj.ejhg.5201977

Cited by 23 publications

(21 citation statements)

References 24 publications

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“…Hypoplasia of the corpus callosum was observed in 4 other patients with abnormalities in chromosome 14 not overlapping the deletion of our patient [Ono et al, 1999;Schneider et al, 2008;Ouertani et al, 2009]. Agenesis of the corpus callosum was diagnosed in a trisomy 14q23q32, that includes the region deleted in our patient [Geormaneanu et al, 1981].…”

Section: Discussionmentioning

confidence: 52%

A Complex Chromosome Rearrangement Involving Four Chromosomes, Nine Breakpoints and a Cryptic 0.6-Mb Deletion in a Boy with Cerebellar Hypoplasia and Defects in Skull Ossification

Guilherme

Cernach

Sfakianakis

et al. 2013

Cytogenet Genome Res

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Constitutional complex chromosomal rearrangements (CCRs) are considered rare cytogenetic events. Most apparently balanced CCRs are de novo and are usually found in patients with abnormal phenotypes. High-resolution techniques are unveiling genomic imbalances in a great percentage of these cases. In this paper, we report a patient with growth and developmental delay, dysmorphic features, nervous system anomalies (pachygyria, hypoplasia of the corpus callosum and cerebellum), a marked reduction in the ossification of the cranial vault, skull base sclerosis, and cardiopathy who presents a CCR with 9 breakpoints involving 4 chromosomes (3, 6, 8 and 14) and a 0.6-Mb deletion in 14q24.1. Although the only genomic imbalance revealed by the array technique was a deletion, the clinical phenotype of the patient most likely cannot be attributed exclusively to haploinsufficiency. Other events must also be considered, including the disruption of critical genes and position effects. A combination of several different investigative approaches (G-banding, FISH with different probes and SNP array techniques) was required to describe this CCR in full, suggesting that CCRs may be more frequent than initially thought. Additionally, we propose that a chain chromosome breakage mechanism may have occurred as a single rearrangement event resulting in this CCR. This study demonstrates the importance of applying different cytogenetic and molecular techniques to detect subtle rearrangements and to delineate the rearrangements at a more accurate level, providing a better understanding of the mechanisms involved in CCR formation and a better correlation with phenotype.

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Section: Discussionmentioning

confidence: 52%

A Complex Chromosome Rearrangement Involving Four Chromosomes, Nine Breakpoints and a Cryptic 0.6-Mb Deletion in a Boy with Cerebellar Hypoplasia and Defects in Skull Ossification

Guilherme

Cernach

Sfakianakis

et al. 2013

Cytogenet Genome Res

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“…Chromosome 14q abnormalities have been associated with various clinical features including inconsistent gastrointestinal and respiratory defects [7][8][9][10][11][12][13][14][15][16][17][18][19]. Phenotypic variability can be attributed to differences in size of the 14q rearrangment, an additional chromosomal abnormality or the parental origin of the additional 14q segment [20][21][22].…”

Section: Discussionmentioning

confidence: 99%

“…Atresias (anal, esophageal and tracheoesophageal), imperforate anus, midgut malrotation, intestinal dysmotility, pyloric stenosis and laryngomalacia have been identified but there is no consistent phenotype with 14q aberrations [4,8,[12][13][14][15][16]. Terminal deletion 14q and duplication 14q in a patient with neonatal hypotonia, psychomotor retardation, intellectual disabilities, short stature and facial dysmorphism has been reported [17].…”

Section: Introductionmentioning

confidence: 99%

Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

Santoro¹

2016

JPNC

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Terminal deletions of 14q are rare but have typical clinical findings whereas distal duplications of 14q are less well characterized. The combination of terminal deletion and distal duplication of 14q has only been reported once before. Neither terminal deletions nor duplications are consistently reported to have gastrointestinal or pulmonary manifestations. We report a terminal deletion and a distal inverted duplication of 14q in a patient with multiple anomalies; duodenal malrotation, feeding intolerance, cholestasis, tracheo-laryngo-pharyngomalacia and small bilateral congenital cystic adenomatoid malformations with severe obstructive sleep apnea. This is the first report of gastrointestinal and pulmonary features in a patient with both terminal 14q deletion and distal 14q duplication.

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“…Brain neuroimaging studies of patients carrying terminal deletions of the long arm of chromosome 14 have been rarely reported. Hypoplasia of the corpus callosum (Nicita et al, ; Schneider et al, ) and enlargement of cerebral ventricles Mertens et al, () or fronto‐temporal sub‐arachnoids spaces (Nicita et al, ) seem to be the most valuable brain abnormalities, the case reported by Mertens et al () being the result of post mortem brain examination.…”

Section: Introductionmentioning

confidence: 99%

“…Conversely, the phenotype is relatively well‐known and characterized by high forehead with lateral hyperthricosis, narrow palpebral fissures, epicanthic folds, short nose with bulbous and upturned tip, long philtrum, thin upper lip and narrow mouth, highly arched palate, microretrognathia, and thick earlobes (Maurin et al, ; Ortigas, Stein, Thomson, & Hoo, ; Schneider et al, ). Others abnormalities include ocular microcornea, retinal‐choroidal coloboma, strabismus, and jerk nystagmus (Chung, Chawla, & FitzGerald, ).…”

Section: Introductionmentioning

confidence: 99%

“Minimal” holoprosencephaly in a 14q deletion syndrome patient

Giustina

Iodice

Spagnoli

et al. 2017

American J of Med Genetics Pt A

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We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. This appears to be the first description in a 14q deletion patient.

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Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

Cited by 23 publications

References 24 publications

A Complex Chromosome Rearrangement Involving Four Chromosomes, Nine Breakpoints and a Cryptic 0.6-Mb Deletion in a Boy with Cerebellar Hypoplasia and Defects in Skull Ossification

A Complex Chromosome Rearrangement Involving Four Chromosomes, Nine Breakpoints and a Cryptic 0.6-Mb Deletion in a Boy with Cerebellar Hypoplasia and Defects in Skull Ossification

Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

“Minimal” holoprosencephaly in a 14q deletion syndrome patient

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