Abstract:
BACKGROUND:Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks a distinct banding pattern. Array comparative genomic hybridisation (CGH) has become a powerful tool for the detection of microdeletions and microduplications at high resolution in patients with syndromic mental retardation. METHODS AND RESULTS:Using array CGH, this study identified three interstitial overlapping 19q13.11 deletions, defining a minimal critical region of 2.87 Mb, associated with a clinically recognisable syndrome. The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding difficulties, microcephaly, hypospadias, signs of ectodermal dysplasia, and cutis aplasia over the posterior occiput. Interestingly, these clinical features have also been described in a previously reported patient with a 19q12q13.1 deletion. No recurrent breakpoints were identified in our patients, suggesting that no-allelic homologous recombination mechanism is not involved in these rearrangements. CONCLUSIONS:Based on these results, the authors suggest that this chromosomal abnormality may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage sensitive genes in the 19q13.11 region.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Malan V,Raoul O,Firth HV,Royer G,Turleau C,Bernheim A,Willatt L,Munnich A,Vekemans M,Lyonnet S,Cormier-Daire V,Colleaux Ldoi
10.1136/jmg.2008.062034subject
Has Abstractpub_date
2009-09-01 00:00:00pages
635-40issue
9eissn
0022-2593issn
1468-6244pii
jmg.2008.062034journal_volume
46pub_type
信件abstract::Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cyto...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.11.907
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-102992
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abstract::The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.4.328
更新日期:1998-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.4.284
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journal_title:Journal of medical genetics
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abstract::Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease...
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journal_title:Journal of medical genetics
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abstract::Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...
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pub_type: 杂志文章,评审
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journal_title:Journal of medical genetics
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journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
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abstract::To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:2019-04-01 00:00:00
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journal_title:Journal of medical genetics
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pub_type: 杂志文章
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更新日期:2011-03-01 00:00:00
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更新日期:1998-05-01 00:00:00
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pub_type: 信件
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更新日期:2006-12-01 00:00:00