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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Becker L E.: Comment. Am. J. Neuroradiol. 19:399, 1998. [PMC free article: PMC8338167] [PubMed: 9504507]
Gabrielli O, Coppa G V, Carloni I, Salvolini U.: 18q- syndrome and white matter alterations. Am. J. Neuroradiol. 19:398, 1998. [PMC free article: PMC8338173] [PubMed: 9504506]
Loevner L A, Overhauser J, Kamholz J.: Reply. Am. J. Neuroradiol. 19:398-399, 1998.
Mahr R N, Moberg P J, Overhauser J, Strathdee G, Kamholz J, Loevner L A, Campbell H, Zackai E H, Reber M E, Mozley D P, Brown L, Turetsky B I, Shapiro R M.: Neuropsychiatry of 18q- syndrome. AJMG (Neuropsych. Genet.) 67:172-178, 1996. [PubMed: 8723044]Basically the authors found no consistant relationship between the size of deleted segment and any characteristic previously reported in case studies.Aberration: Terminal deletionChromosomal Aneuploidy: 18q-No band - Borgaonkar D S, Bias W B, Scott C I, Wadia R S, Borkowf S P: IgA and abnormal chromosome 18. Lancet 1:206-207, 1969. [PubMed: 4178450]
Borkowf S P, Wadia R P, Borgaonkar D S, Bias W B: Partial deletion of the long arm of a chromosome 18. BD-OAS V(No. 5):155-159, 1969.46,XX,del(18)(q21).&46,XX,del(18)(pter -> q2:).Aberration: Terminal deletionMIM#: 601808No band - Cody J D, Carter E M, Sebold C, Heard P L, Hale D E.: A gene dosage map of chromosome 18: a map with clinical utility. Genet. in Med. 11: 778-782, 2009. [PubMed: 19745747]
Cody J D, Ghidoni P D, DuPont B R, Hale D E, Hilsenbeck S G, Stratton R F, Hoffman D S, Muller S, Schaub R L, Leach R J, Kaye C I.: Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. AJMG 85:455-462, 1999. [PubMed: 10405442]
Cody J D, Heard P L, Crandall A C, Carter E M, Li J, Hardies J, Lancaster J, Perry B, Startton R F, Sebold C, Schaub R L, Soileau B, Hill A, Hasi M, Fox P T, Hale D E.: Narrowing critical regions and determing penetrance for selected 18q- phenotypes. AJMG Part A: 149A: 1421-1430, 2009. [PMC free article: PMC5325704] [PubMed: 19533771]
Cody J D, Pierce J F, Brkanac Z, Plaetke R, Ghidoni P D, Kaye C I, Leach R J.: Preferential loss of the paternal alleles in the 18q- syndrome. AJMG 69:280-286, 1997. [PubMed: 9096757]
Gay C T, Hardies L J, Rauch R A, Lancaster J L, Plaetke R, DuPont B R, Cody J D, Cornell J E, Herndon R C, Ghidoni P D, Schiff J M, Kaye C I, Leach R J, Fox P T.: Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. AJMG (Neuropsychiat. Genet.) 74:422-431, 1997. [PubMed: 9259379]
Ghidoni P D, Hale D E, Cody J D, Gay C T, Thompson N M, McClure E B, Danney M M, Leach R J, Kaye C I.: Growth hormone deficiency associated in the 18q deletion syndrome. AJMG 69:7-12, 1997. [PubMed: 9066876]5 patients were evaluated for growth hormone deficiency and it is postulated that gene(s) on 18q may be involved.
Wang Z, Cody J D, Leach R J, O''Connell P.: Gene expression patterns in cell lines from patients with 18q- syndrome. Hum. Genet. 104:467-475, 1999. [PubMed: 10453734]In the 1997 study, 34 patients were studied. 85% of the de novo deletions in 34 individuals were found to be paternal in origin.29 patients and 12 controls were studied.MRI demonstrated abnormal brain white matter in all patients.Aberration: Terminal deletionMIM#: 601808Chromosomal Aneuploidy: 18q-Index Terms: Growth hormone deficiencyNo band - Faulkner K W, Holmes L B, Steinfeld A, Abroms I F: A child with 18q- syndrome and cerebellar astrocytoma. J. Ped. 103:600-602, 1983. [PubMed: 6620023]
Strathdee G, Zackai E H, Shapiro R, Kamholz J, Overhauser J.: Analysis of clinical variation seen in patients with 18q terminal deletions. AJMG 59:476-483, 1995. [PubMed: 8585568]26 patients in all were analyzed.46,XY,del(18)(q2:).&Parental karyotypes were normal.Aberration: Terminal deletionMIM#: 137800Index Terms: Astrocytoma ... cerebellarNo band - O''Donnell L, Soileau B, Heard P, Carter E, Sebold C, Gelfond J, hale D E, Cody J D.: Genetic determinants of autism in individuals with deletions of 18q. Hum. Genet. 128: 155-164, 2010. [PubMed: 20499253]Aberration: TD,IDChromosomal Aneuploidy: 18q-Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Rosati E, Latini G, De Mitri B, Quartulli L, Caliandro P.: 18q- syndrome with congenital laryngeal stridor: case report. Riv. Ital. Pediat. 20:265-268, 1994.Patient P.D.46,XY,del(18)(q2:).The infant had MCA including flat facial profile with prominent anthelix and antitragus, midfacial hypoplasia, carp-shaped mouth and seborroic dermatitis.Aberration: Terminal deletionChromosomal Aneuploidy: 18q-Index Terms: Stridor, congenital laryngealNo band
- Silverman G A, Schneider S S, Massa H F, Flint A, Lalande M, Leonard J C, Overhauser J, van den Engh G, Trask B J.: The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. AJHG 56:926-937, 1995. [PMC free article: PMC1801205] [PubMed: 7717403]17 patients were studied.del(18)(q21.2:) 5 patients; del(18)(q21.3) 6 patients; del(18)(q22.1) 5 patients.A deletion of q22.2->qter seems to be more representative of the critical region.Aberration: Terminal deletionChromosomal Aneuploidy: 18q-No band
- Wyandt H E, Hecht F, Lovrien E, Stewart R E: Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q+). Cytogenetics 10:413-426, 1971. [PubMed: 5146418]45,XX,-18,-21,+t(18;21)(18pter->18q2::21q->21qter).,The patient had dyschondrosteosis and mild mental retardation.Aberration: Simple translocationNo band
- Wyandt H E, Vlietinck R F, Magenis R E, Hecht F: Colored reverse-banding of human chromosomes with acridine orange following alkaline-formalin treatment: densitometric validations and applications. Humangenetik 23:119-130, 1974. [PubMed: 4136600]Case No. 4 in this report.46,XY,t(18;20)(q2;q13).Aberration: Simple translocationNo band
- 18q200 - Chromosomal Variation in Man18q200 - Chromosomal Variation in Man
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