DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Greenberg, Frank

doi:10.1136/jmg.30.10.803

Cited by 92 publications

(36 citation statements)

References 19 publications

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“…This indicates that in a minority of patients there are likely to be other causes of the syndrome, possibly involving point mutations in key genes in the 22q11 region that have yet to be identified (Lindsay et al 1995a). Other chromosomal regions, including 10p13 and 18q21, have been associated with some DGS features (Daw et al 1996;Greenberg 1993;Monaco et al 1991) but facial features appear to be different (Demczuk and Aurias 1995). Non-genetic causes of syndromal features are also possible (Hall 1993).…”

Section: Etiologic Heterogeneitymentioning

confidence: 99%

22q11 deletion syndrome: a genetic subtype of schizophrenia

Bassett

Chow

1999

Biological Psychiatry

296

229

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Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an under-recognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (~2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms.

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Section: Etiologic Heterogeneitymentioning

confidence: 99%

22q11 deletion syndrome: a genetic subtype of schizophrenia

Bassett

Chow

1999

Biological Psychiatry

296

229

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“…44 On FISH, Ϸ90% of patients with the DiGeorge phenotype have a microdeletion of part of 1 copy of chromosome 22. 45 The prevalence of the 22q11 deletion has been estimated at 1 per 5950 live births. 46 Subsequently, it has been shown that patients with the clinical diagnosis of DiGeorge, velocardiofacial (Shprintzen), or conotruncal anomaly face syndromes most often share a common genetic origin, namely, a 22q11 deletion.…”

Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 99%

Genetic Basis for Congenital Heart Defects: Current Knowledge

Pierpont¹,

Basson²,

Benson³

et al. 2007

Circulation

740

377

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Abstract-The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease. (Circulation. 2007;115:3015-3038.)

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“…First, the facial traits bore no resemblance to those classically described [Greenberg, 1993;. Second, the magnitude of the growth failure and severity of the mental retardation were uncharacteristic [Greenberg, 1993;. Third, the mild cardiac conduction defect noted in our patient, was not typical of the conotruncal and aortic arch abnormalities reported in DiGeorge syndrome .…”

Section: Discussionmentioning

confidence: 58%

“…However, for several reasons we do not think our patient had DiGeorge syndrome. First, the facial traits bore no resemblance to those classically described [Greenberg, 1993;. Second, the magnitude of the growth failure and severity of the mental retardation were uncharacteristic [Greenberg, 1993;.…”

Section: Discussionmentioning

confidence: 92%

Multiple endocrinopathies in an infant with fatal neurodegenerative disease

et al. 1997

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We report on a male infant with congenital hypoparathyroidism who developed primary hypothyroidism at 3 months and insulin-dependent diabetes mellitus at 25 months. He had evidence of widespread and progressive neurologic dysfunction characterized by severe developmental delay, blindness, deafness, seizures, atrophy of the cerebellar and frontal lobes, and elevated spinal fluid protein. Also noted were renal hypoplasia, hyporeninemic hypoaldosteronism, chronic anemia, persistent elevation of liver transaminase levels, abnormal intraventricular cardiac conduction, reduction in numbers of helper T-cells, and distinctive facial anomalies. The child died of multiorgan failure at 29 months. A mitochondrial basis for the syndrome was considered but a molecular mechanism has, as yet, not been identified.

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DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Cited by 92 publications

References 19 publications

22q11 deletion syndrome: a genetic subtype of schizophrenia

22q11 deletion syndrome: a genetic subtype of schizophrenia

Genetic Basis for Congenital Heart Defects: Current Knowledge

Multiple endocrinopathies in an infant with fatal neurodegenerative disease

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