Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

Löffler, Judith; Utermann, Barbara; Duba, Hans C.; Mayr, U.; Utermann, Gerd; Erdel, Martin

doi:10.1002/(sici)1096-8628(20000410)91:4<291::aid-ajmg10>3.0.co;2-3

Cited by 4 publications

(6 citation statements)

References 12 publications

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“…Kyphoscoliosis was reported in 4 patients, including the present case, and other skeletal anomalies reported previously include missing ribs and delayed ossification of phalanges and upper cervical vertebrae [Bartsch et al, 1990]. Ocular issues such as high-grade myopia, astigmatism and sclerosis of the fundi and strabismus were also reported in 3 cases [Loffler et al, 2000]. Our patient was noted to have a moderate fenestrated secundum ASD and anterior muscular VSD; however, cardiovascular disease was not a common occurrence in this group and was reported in only 2 other patients includ-ing mild aortic insufficiency [Loffler et al, 2000] and pulmonary valve dysplasia, intraventricular septal defect, and intra-atrial septal defect [Scelsa et al, 2008].…”

Section: Resultssupporting

confidence: 54%

“…Ocular issues such as high-grade myopia, astigmatism and sclerosis of the fundi and strabismus were also reported in 3 cases [Loffler et al, 2000]. Our patient was noted to have a moderate fenestrated secundum ASD and anterior muscular VSD; however, cardiovascular disease was not a common occurrence in this group and was reported in only 2 other patients includ-ing mild aortic insufficiency [Loffler et al, 2000] and pulmonary valve dysplasia, intraventricular septal defect, and intra-atrial septal defect [Scelsa et al, 2008]. Low birth weight, even though reported as a common finding, was only reported in 2 patients [Novales et al, 1982;Scelsa et al, 2008].…”

Section: Resultsmentioning

confidence: 55%

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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Bosfield¹,

Diaz²,

Leon³

2021

Mol Syndromol

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Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.

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Section: Resultssupporting

confidence: 54%

Section: Resultsmentioning

confidence: 55%

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Bosfield¹,

Diaz²,

Leon³

2021

Mol Syndromol

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“…Four cases of duplicated regions of 7q were large, had complex rearrangements with other chromosomes, and seizures were not a feature (101,102). However, Löffler et al (103) reported siblings with a pure duplication of 7q32-q34, each having a generalized seizure disorder. Seizures were not a feature of the reported cases of ring 7 syndrome (104,105).…”

Section: Other Chromosome 7 Anomaliesmentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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“…There are no previous reports suggesting that the absence seizures, found in our patient, is specifically associated with chromosomal conditions including trisomy 7 mosaicism. Some cases of partial trisomy 7 have been reported to have other seizures, including generalized convulsions [7], epileptic crises [8] and infantile spasms [9]. Genes located on chromosome 7, which have been implicated in having a role in the development of seizures, include the metabotropic glutamate receptor gene in the region 7q32-q34 [7], and the KCTD7 gene in 7q11.2.…”

Section: Discussionmentioning

confidence: 99%

“…Some cases of partial trisomy 7 have been reported to have other seizures, including generalized convulsions [7], epileptic crises [8] and infantile spasms [9]. Genes located on chromosome 7, which have been implicated in having a role in the development of seizures, include the metabotropic glutamate receptor gene in the region 7q32-q34 [7], and the KCTD7 gene in 7q11.2. Increases in the expression of the metabotropic glutamate receptor gene may increase seizure activity [10].…”

Section: Discussionmentioning

confidence: 99%

Epilepsy in trisomy 7 mosaicism: A case report and literature review

Veerapandiyan¹,

Gallentine²,

Schoch³

et al. 2015

J Pediatr Neurol

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Epilepsy is found to be frequently associated with many chromosomal disorders. We describe a 5-year-old boy with recurrent absence seizures, developmental delay, hypomelanosis of Ito, facial asymmetry and mild dysmorphic features that has tissue specific trisomy 7 mosaicism. We compare our patient with the long term surviving patients of mosaic trisomy 7 reported to date in the literature to highlight that epilepsy is a common feature in this chromosomal condition. The wide phenotypic variability of mosaic trisomy 7 is described. We conclude that a combination of epilepsy and hypomelanosis of Ito in a patient should prompt a clinician to think of chromosomal mosaicism, such as mosaic trisomy 7.

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Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

Cited by 4 publications

References 12 publications

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Epilepsy in trisomy 7 mosaicism: A case report and literature review

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