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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- Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]Case No. 19:46,XX,del(11)(q14.2q22.2),dim(11)(q14),wcp11+The patient was studied because of developmental delay and dysmorphic features.Aberration: Interstitial deletionChromosomal Aneuploidy: 11q-
- Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]46,XY,t(11;15)(q142;q25).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- de France H F, Beemer F A, Senders R Ch, Gerards L J, Cats B P: "Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture." Clin. Genet. 25:295-299, 1984. [PubMed: 6705263]46,XY,t(11;18)(q142;p1131).,46,XX,-11,+der(11)t(11;18)(18qter->18p1131::11q142->11qter)pat.,See Borgaonkar, D S: Comment on "Partial trisomy 11q....", report by de France et al (1984). Clin. Genet. 26:492-493, 1984.Aberration: Simple translocationNegative band
- Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]Case No. 37=46,XX,del(11)(q14.2q23.3).dim(11q14.2q23.3)The patient was severely growth retarded.Aberration: Interstitial deletionChromosomal Aneuploidy: 11q-
- Kleczkowska A, Fryns J P: Mosaic normal/unbalanced karyotype and recurrent fetal wastage. AJMG 36:379, 1990. [PubMed: 2363448]46,XX/46,XX,del(11)(:q142 -> q23.2:).The couple had two spontaneous first trimester abortions.Aberration: Interstitial deletionChromosomal Aneuploidy: 11q-Negative band
- Ono J, Hasegawa T, Sugama S, Sagehashi N, Hase Y, Oku K, Endo Y, Ohdo S, Ishikiriyama S, Tsukamoto H, Okada S.: Partial deletion of the long arm of chromosome 11: ten Japanese children. Clin. Genet. 50:474-478, 1996. [PubMed: 9147876]Group I patients 1, 2, and 3:del(11)(q14.2->q23.2),(q21->q23.1), and (q21->q23) respectively.Ages were 11, 12 and 8 years respectively.Patients 4 (male, 3 years old), 6 (female, 11 years old), and 7 (female 13 years old):del(11)(q23->qter)Patients of the IInd group showed mild to moderate developmental delays without deterioration. Abnormalities of neuroimages, MR images were present.The ten patients were divided into three groups. Ist group included three patients with interstitial deletions preserving subband q24.1. 2nd group consisted of 6 patients with terminal deletions including q24.1 subband. 3rd group of only one patient had a terminal deletion at q24.2 without phenotypic characteristics.Aberration: Interstitial deletionMIM#: 147791Chromosomal Aneuploidy: 11q-No band
- 11q142 - Chromosomal Variation in Man11q142 - Chromosomal Variation in Man
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