Two cases of interstitial deletion 1p.

Lai, Miinyuh; Robards, M. F.; Berry, Andrew C.; Fear, Claudine; Hart, Christoph

doi:10.1136/jmg.28.2.128

Cited by 18 publications

(23 citation statements)

References 4 publications

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“…There are six reported cases with breakpoints overlapping those of our patient [Ikeuchi et al, 1982;Hertz and Jensen, 1985;Petersen and Warburg, 1987;Lai et al, 1991;Tabata et al, 1991;Mattia et al, 1992]. The report with the closest breakpoints is a translocation involving chromosomes 1 and 2, with loss of chromosome 1 from bands p21-p22.2 (I in Fig.…”

Section: Discussionsupporting

confidence: 52%

“…4). Most reported cases are of children or adults with psychomotor retardation and multiple minor anomalies [Bene et al, 1979;Petersen and Warburg, 1987;Lai et al, 1991;Yoshino et al, 1991;Mattia et al, 1992;Barton et al, 1995]. Table I shows a compilation of the anomalies reported.…”

Section: Discussionmentioning

confidence: 95%

“…4) [Biegel et al, 1993] also developed neuroblastoma and the deleted segment in this patient includes the putative neuroblastoma locus. There are also many publications of neoplasms associated with loss of heterozygosity and cytogenetic abnormalities involving [Biegel et al, 1993], B. del(1)(p34.1p36.1) [Howard and Porteus, 1990], C. del(1)(p32.3p34.1) [Yoshino et al, 1991], D. del(1)(p32.1p32.3) [Barton et al, 1995], E. del(1)(p22.3p31.3) [Lai et al, 1991], F. del(1)(p21p22.3), our patient, G. del(1)(p32p34.3) [Köhler, 1993], H. del(1)(p22p32) [Bene et al, 1979], I. del(1)(p21p22.2) [Hertz and Jensen, 1985], J. del(1)(p22.1p32.1) [Ikeuchi et al, 1982], K. del(1)(p22.1p31.2) [Lai et al, 1991], L. del(1)(p22.1p31.2) [Petersen and Warburg, 1987], M. del(1)(p13.3p22.3) [Mattia et al, 1992], N. del(1)(p13.3p22.3) [Tabata et al, 1991]. [Biegel et al, 1993], B [Howard and Porteus, 1990], C [Yoshino et al, 1991], D [Barton et al, 1995], E [Lai et al, 1991], F Our patient, H [Bene et al, 1979], I [Hertz and Jensen, 1985], K [Lai et al, 1991], L [Petersen and Warburg, 1987], M [Mattia et al, 1992], and N [Tabata et al, 1991].…”

Section: Discussionmentioning

confidence: 99%

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Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

et al. 1997

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We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.

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Section: Discussionsupporting

confidence: 52%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

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Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

et al. 1997

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“…Seizures were reported in only two of eight cases of interstitial deletions (33,34), one with generalized seizures and a normal EEG (34), and in the other, seizures were described with a left temporal focus (33). Seizures and an abnormal EEG also have been described in four cases of complex rearrangements of chromosome 1 with other chromosomes including 13 (35), 15 (36), 11, 13, and 21 (37).…”

Section: Other Chromosome 1 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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“…The most frequently associated clinical findings are global developmental delay, central nervous system (CNS) malformations, dysmorphic features, and urinary tract malformations. Individuals with partial deletions present with a phenotype similar to those with a deletion of this entire region [Bene et al, 1979;Lai et al, 1991; Bene et al, 1978 ( a ), Lai et al, 1991, patient 2 ( b ), Sivasankara et al, 1997 ( c ), Campbell et al, 2002, and Lu et al, 2007, patient 1 ( d ), Campbell et al, 2002, and Lu et al, 2007, Shaw-Smith et al, 2004 ( f ), Chen et al, 2011( g ), Ji et al, 2014, Zinner andBatanian, 2003, andLabonne et al, 2016 ( i ), Petersen and Warburg, 1987 ( j ), Lai et al, 1991, patient 1 ( k ), Mircher et al, 2003 ( l ), Gillberg and FitzPatrick, 2010 ( m ), Tassano et al, 2015( n ), DECIPHER 1927, DECIPHER 250300 ( p ), and DECIPHER 277832 ( q ). The colors of the deletion blocks correspond to the colors of the column heads for each patient in online supplementary table 3.…”

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confidence: 99%

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Rivera‐Pedroza¹,

Barraza-García²,

Paumard‐Hernández

et al. 2016

Mol Syndromol

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Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developmental delay, seizures, round face with a prominent nose, micro/retrognathia, half-opened mouth, short neck, hand/foot malformations, hernia, congenital heart malformations, and abnormal external genitalia. The deletion spanned ∼18.6 Mb and included a total of 68 OMIM protein coding genes. We have reviewed 17 cases previously described in the literature and in DECIPHER involving the chromosomal region 1p31.1p31.3. Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. Taking into account the MORBID ID and the haploinsufficiency score of the genes, we go on to propose which genes may explain particular clinical features observed in the patient. IL23R may be responsible for the craniosynostosis, FOXD2 for the renal anomalies, LHX8 for closure defects of the palate, and ST6GALNAC3 for skin anomalies. In summary, we have identified a chromosome 1p31.1p31.3 deletion in a patient with an atypical presentation of craniosynostosis amongst other more typical features observed in individuals with similar deletions.

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Two cases of interstitial deletion 1p.

Cited by 18 publications

References 4 publications

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

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

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

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