ArticleAmerican journal of human genetics1995
The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Article
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.Diagnostics (Basel, Switzerland) · 2023Article
- Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.Journal of medical case reports · 2022Review
- A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.Molecular genetics & genomic medicine · 2021Article
- Retinoblastoma and mosaic 13q deletion: a case report.International journal of retina and vitreous · 2021Article
- A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.BMC medical genomics · 2019Article
- The rare 13q33-q34 microdeletions: eight new patients and review of the literature.Human genetics · 2019Review
- A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including theJournal of pediatric genetics · 2019Article
- Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.Molecular syndromology · 2019Article
- 13q mosaic deletion includingMolecular cytogenetics · 2018Article
- Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.Molecular medicine reports · 2017Article
- Sox21 deletion in mice causes postnatal growth deficiency without physiological disruption of hypothalamic-pituitary endocrine axes.Molecular and cellular endocrinology · 2017Article
- De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.American journal of human genetics · 2015Article
- Phenotypical characterization of 13q deletion syndrome: Report of two cases.Indian journal of human genetics · 2014Article
- The sodium leak channel, NALCN, in health and disease.Frontiers in cellular neuroscience · 2014Review
- Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.European journal of human genetics : EJHG · 2011Article
- Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report.Journal of medical case reports · 2011Article
- Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Journal of medical genetics · 2010Article
- The molecular genetics of holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2010Review
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Patients with interstitial deletions of the long arm of chromosome 13 may have widely varying phenotypes. From cytogenetic analysis, we have postulated that there is a discrete region in 13q32 where deletion leads to a syndrome of severe malformations, including digital and brain anomalies. To test this hypothesis at the molecular level, we have studied the deletions in 17 patients; 5 had severe malformations, while the remaining 12 had only minor malformations. Our results indicate that the deletions in the severely affected patients all involve an overlapping region in q32, while the deletions in the mildly affected patients include some, but not all, of this overlapping region. Our findings are consistent with the hypothesis that the severely malformed 13q- phenotype results from the deletion of a critical region in 13q32. This region is presently defined as lying between D13S136 and D13S147 and is on the order of 1 Mb in size.
Indexed as
Identifiers
7573047PMC1801482What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.