Molecular characterization of a patient with del(1)(q23–q25)

Franco, Brunella; Lai, Li Wen; Patterson, David; Ledbetter, David H.; Trask, Barbara J.; Engh, Ger van den; Iannaccone, Susan T.; Frances, Shannon; Patel, Pragna I.; Lupski, James R.

doi:10.1007/bf00200903

Cited by 27 publications

(34 citation statements)

References 48 publications

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“…Three of these reports described only a few phenotypic features [Moghe et al, 1981;Higgins et al, 1982;Martin and Simpson, 1982] and, as well as in the report of Franco et al [1991], patient's photographs were lacking.…”

Section: Discussionmentioning

confidence: 88%

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

et al. 2001

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A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.

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Section: Discussionmentioning

confidence: 88%

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

et al. 2001

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“…The 10.7 Mb deletion resulted in multiple congenital anomalies and psychomotor retardation. Franco et al [1991] reviewed 11 patients with chromosome 1q21q25 deletions. Accordingly, some of those patients might fulfill the SRS-diagnostic criteria.…”

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confidence: 99%

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome

Lin

Lee

Hung

et al. 2010

American J of Med Genetics Pt A

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Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous congenital disorder characterized by severe growth retardation. Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology. We combined several molecular technologies including multiplex methylation polymerase chain reaction, methylation-sensitive multiple ligation probe-dependent amplification, and methylation-sensitive high-resolution melting to assess the epigenetic status of 34 patients with SRS. Additionally, we applied a whole genome strategy to detect copy number changes and loss of heterozygosity. Thirteen patients (38.2%) had hypomethylation of the DMR of the H19 gene and none had uniparental disomy of maternal chromosome 7. The whole genome arrays identified five patients (14.7%) with microdeletions on chromosomes 1q23q24.3, 7p15.3, 13q31.3, 14q32.31, and 15q26.2qter, respectively. The overall mutation detection rate was 52.9% by the epigenetic study and the whole genome strategy. Although epimutation may be the major cause of SRS and can be identified by multiplex methylation polymerase chain reaction, the whole genome approach also provides information on the etiology of SRS. If no epimutation is identified in the patients with typical SRS, microdeletions should be suspected.

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“…The principal features of patients with a 1q deletion are microcephaly, pre-and postnatal growth retardation, psychomotor retardation, abnormal ears and micrognathia, small hands and feet, and brachydactyly [Schwanitz et al, 1977;de Pablo et al, 1980;Schinzel and Schmid, 1980;Higgins et al, 1982;Martin and Simpson, 1982;Taysi et al, 1982;Silengo et al, 1984;Beemer et al, 1985;Zaletaev et al, 1987;Franco et al,1991;Leichtman et al,1993;Lo et al,1993].…”

mentioning

confidence: 99%

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

Milani¹,

Bedeschi²,

Iascone

et al. 2012

Cytogenet Genome Res

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We describe the case of a 6-year-old boy with a de novo deletion of the long arm of chromosome 1 encompassing band 1q31.1–q32.1, minor facial anomalies, mild developmental delay, and behavioral disorders. His postnatal karyotype was normal. Using array-comparative genomic hybridization, we identified and characterized a de novo 1q interstitial deletion of about 15.6 Mb, which partially overlaps those of other reported cases. We considered the gene content of the deleted region in an attempt to compare the clinical features of our patient with these other cases, even though they were not characterized molecularly in detail. The most remarkable difference was the absence of microcephaly. To the best of our knowledge, this is the first report of a de novo 1q31.1–q32.1 deletion. Moreover, it illustrates how molecular delineation associated with fine clinical characterization can improve the genotype-phenotype correlations of classical cytogenetic abnormalities.

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Molecular characterization of a patient with del(1)(q23–q25)

Cited by 27 publications

References 48 publications

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome

De novo Deletion of 1q31.1–q32.1 in a Patient with Developmental Delay and Behavioral Disorders

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