Clinical and chromosomal studies of the 18q-syndrome

Wertelecki, Wladimir; Gerald, Park S.

doi:10.1016/s0022-3476(71)80262-7

Cited by 76 publications

(46 citation statements)

References 14 publications

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“…The 18q-deletion syndrome (18qDS) was first described by de Grouchy in 1964 (1). This genetic imbalance syndrome is caused by variable deletions of parts of the long arm of chromosome 18 from 18q21.3 or 18q22.2 to the' q-terminal.…”

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confidence: 99%

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

et al. 2000

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Summary: Purpose: The 18q‐ deletion syndrome (18qDS) is frequently associated with cardiac anomalies. Patients with this syndrome may also have epilepsy, which presents certain diagnostic difficulties. This case report aims to illustrate these diagnostic problems, document the usefulness of heart rate‐based seizure detection algorithms in this setting, and define the epilepsy syndrome associated with 18qDS. Methods: Closed‐circuit video electroencephalogram (EEG) monitoring using a heart rate–based seizure detection software was used to identify the event in question and to establish the diagnosis of epilepsy. Chromosomal analysis and magnetic resonance imaging (MRI) were used to further define the epilepsy syndrome. Results: We report on a patient with an atrial septal defect, enlargement of the right heart, and incomplete right bundle branch block, who developed episodes of tachycardia, loss of consciousness, and pallor, for which he was amnesic. Chromosomal analysis demonstrated karyotype 46, XY, del(18)(q21.3). ish del(18)(wcp18+, D18Z1+) with a loss of the gene for myelin basic protein. MRI revealed multifocal dysmyelination. Video‐EEG monitoring using an electrocardiogram (ECG)‐triggered seizure detection software proved to be indispensable in detecting an autonomic seizure and establishing the correct diagnosis; the procedure also allowed for the definition of the epilepsy syndrome. The patient was treated with carbamazepine and remained seizure‐free. Conclusions: Video‐EEG monitoring using a heart rate‐based seizure detection software can be helpful in diagnostically differentiating autonomic seizures from syncope. Dysmyelination due to loss of the myelin basic protein gene on 18q and cortical dysgenesis may be of pathogenic relevance.

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confidence: 99%

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

et al. 2000

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“…Various etiologies have been described as causing myelination delay, such as chromosomal abnormalities (e.g., trisomy 21), inborn errors of metabolism (e.g., methylmalonic acidemia [20] and phenylketonuria [21]) and acquired causes (e.g., hypoxic-ischemic encephalopathy [22]). One exception to this is the X-linked disorder, Allan-Herndon-Dudley syndrome, formerly called MCT8-specific thyroid hormone cell transporter deficiency, a disorder characterized by myelination delay, but that presents [58,71,73,82] Endocrine Adrenal insufficiency Adrenoleukodystrophy [5] Ovarian dysfunction Vanishing white matter disease [36] Hypogonadotropic hypogonadism (delayed puberty)…”

Section: Neuroradiology: the Importance Of Mri Pattern Recognitionmentioning

confidence: 99%

“…Pol III-related [54,55] Growth hormone deficiency Pol III-related; 18q deletion [54,55,66] Thyroid functions abnormalities 18q deletion; Allan-Herndon-Dudley ‡ [71,79] Heart Cardiac conduction block…”

Section: Neuroradiology: the Importance Of Mri Pattern Recognitionmentioning

confidence: 99%

“…Kearns-Sayre syndrome [82] Cardiac malformations 18q deletion [71] Cardiomegaly Fucosidosis [70] Gastrointestinal Hepatosplenomegaly Free sialic acid storage disease, fucosidosis [70,78] Hirschsprung Peripheral neuropathy central hypomyelination, Waardenburg and Hirschsprung syndrome [58] Skin Chilblains Aicardi-Goutières [33] Xanthomas (skin and tendons)…”

Section: Neuroradiology: the Importance Of Mri Pattern Recognitionmentioning

confidence: 99%

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Advances In the Diagnosis of Leukodystrophies

2012

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Leukodystrophies are a heterogeneous group of inherited disorders that preferentially affect the CNS white matter. They are classified as demyelinating (or classic) or hypomyelinating according to brain MRI characteristics. As these disorders often have a similar clinical presentation according to their age of onset, the initial diagnostic approach is often challenging. This review aims to help clinicians approach these disorders using information from the history (e.g., age of onset), the examination (e.g., presence of macrocrania) and MRI scans in order to reduce the number of possible diagnoses for a given patient and to hopefully lead to a precise (molecular) diagnosis.

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“…Del(18q) syndrome is characterized by short stature, microcephaly, disturbed brain myelinization, mental deficiency, hypotonia, midface hypoplasia, prominent anthelix, hearing impairment, tapered fingers, and genital abnormalities, particularly in males (Wertelecki and Gerald 1971;Gorlin et al 1990;Schinzel et al 1991;Gay et al 1997;Cody et al 1999;Linnankivi et al 2003). Congenital heart defects may also be found (Gorlin et al 1990;Sturm et al 2000).…”

Section: Introductionmentioning

confidence: 99%

Case report of de novo dup(18p)/del(18q) and r(18) mosaicism

et al. 2008

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This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH) analysis with chromosome-18 region-specific probes, 46,XX,del (18) [50]. All cell lines appeared to be missing a portion of 18q (q21.33 ? qter). The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient, which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype.

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Clinical and chromosomal studies of the 18q-syndrome

Cited by 76 publications

References 14 publications

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

Advances In the Diagnosis of Leukodystrophies

Case report of de novo dup(18p)/del(18q) and r(18) mosaicism

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