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Page 1
Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation.
Pisano M, Sangiovanni G, D'Ambrosio F, Romano A, Di Spirito F. Pisano M, et al. Am J Case Rep. 2022 Jun 24;23:e936142. doi: 10.12659/AJCR.936142. Am J Case Rep. 2022. PMID: 35746851 Free PMC article. Review.
BACKGROUND Long arm (q) deletion syndrome of chromosome 18 is a congenital chromosomal disorder. ...The hospital regimen appears to be the criterion standard for the management of the patient with long arm deletion syndrome …
BACKGROUND Long arm (q) deletion syndrome of chromosome 18 is a congenital chromosomal disorder. ...The h …
Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature.
Imataka G, Ohwada Y, Shimura N, Yoshihara S, Arisaka O. Imataka G, et al. Eur Rev Med Pharmacol Sci. 2015 Sep;19(17):3241-5. Eur Rev Med Pharmacol Sci. 2015. PMID: 26400529 Free article. Review.
The terminal deletion of the long arm of chromosome 18 is relatively common among cytogenetic abnormalities, which occur incidentally in approximately 1 in 40,000 live births. Proximal interstitial deletions of the long arm …
The terminal deletion of the long arm of chromosome 18 is relatively common among cytogenetic abnormaliti …
Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H. Schinzel A, et al. J Med Genet. 1991 May;28(5):352-5. doi: 10.1136/jmg.28.5.352. J Med Genet. 1991. PMID: 1865477 Free PMC article. Review.
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, a …
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They w …
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, Chen S, Wang L, Duan L, Zhu H, Pan H. Liu S, et al. Front Endocrinol (Lausanne). 2021 Dec 9;12:776835. doi: 10.3389/fendo.2021.776835. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34956087 Free PMC article. Review.
BACKGROUND: 18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human …
BACKGROUND: 18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome …
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Kline AD, et al. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.
Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. ...In general, the size of the deletion could be correlated with the severity of the phenotype. Ba …
Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, …
Genetic aspects of immunoglobulin A deficiency.
Cunningham-Rundles C. Cunningham-Rundles C. Adv Hum Genet. 1990;19:235-66. doi: 10.1007/978-1-4757-9065-8_4. Adv Hum Genet. 1990. PMID: 2193490 Review.
Obscuring the relationship between chromosome 18 and IgA deficiency is the fact that both short- and long-arm deletions have been reported in IgA deficiency. The chromosome deletions in the individuals who are IgA deficient thus ap …
Obscuring the relationship between chromosome 18 and IgA deficiency is the fact that both short- and long-arm …
Cytogenetic abnormalities in chronic lymphocytic leukemia.
Karnolsky IN. Karnolsky IN. Folia Med (Plovdiv). 2000;42(3):5-10. Folia Med (Plovdiv). 2000. PMID: 11347338 Review.
The oncogene BCL-1 is activated in this translocation. Deletions of the long arm of chromosome 18 (18q21)(q32;q13.1) activate the BCL-2 oncogene, while the translocation t(14;19)(q32;q13.1) activates the BCL-3 oncogene. ...The deletions i …
The oncogene BCL-1 is activated in this translocation. Deletions of the long arm of chromosome 18 (18q21) …
Distal partial trisomy 1q: report of two cases and a review of the literature.
Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T. Utine GE, et al. Prenat Diagn. 2007 Sep;27(9):865-71. doi: 10.1002/pd.1788. Prenat Diagn. 2007. PMID: 17605151 Review.
The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins( …
The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a resul …
Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart MJ, Prieur M, Dubos M, Cabanis MO, Mugneret F, Blanc P, Noel L. Poissonnier M, et al. Ann Genet. 1992;35(3):146-51. Ann Genet. 1992. PMID: 1466563 Review.
Two unrelated mentally retarded patients were found to have an interstitial deletion of 18q12. They were a 2-year-old, short, macrocephalic and autistic girl, and a 5-year-old boy. Six other liveborn patients with comparable deletion have been so far identified. The …
Two unrelated mentally retarded patients were found to have an interstitial deletion of 18q12. They were a 2-year-old, short, macroce …
Chromosome banding analysis of gynecomastias and breast carcinomas in men.
Teixeira MR, Pandis N, Dietrich CU, Reed W, Andersen J, Qvist H, Heim S. Teixeira MR, et al. Genes Chromosomes Cancer. 1998 Sep;23(1):16-20. doi: 10.1002/(sici)1098-2264(199809)23:1<16::aid-gcc3>3.0.co;2-9. Genes Chromosomes Cancer. 1998. PMID: 9713992 Review.
In the carcinoma of case 2, a single abnormal clone was found, characterized by loss of the Y chromosome, monosomy 17, and a deletion of the long arm of chromosome 18. ...In the lymph node metastasis examined from case 4, a single clone c …
In the carcinoma of case 2, a single abnormal clone was found, characterized by loss of the Y chromosome, monosomy 17, and a delet …
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