- Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill B R, Easterday M C, Staaf J, Oseth L, Czarpansky-Beilman D, Avramopoulos D, Thomas G H, Borg A, Valle D, Schimmenti L A, Selleck S B.: Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities. AJHG 80: 938-947, 2007. [PMC free article: PMC1852738] [PubMed: 17436248]Aberration: ID,TDChromosomal Aneuploidy: 10q-
- Same entry as in 02p250,02q340,04q310,10p110 (Boue and Gallano, 1984).
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(10;11)(q22;q23); t(10;17)(q22;q25).Aberration: Reciprocal translocationNegative band
- Bourrouillou G, Colombies P, Blanc P, Grozdea J, Pontonnier F: Anomalies chromosomiques chez les hommes steriles. Etude chez 241 sujets. La Nouv. Presse Med. 7:3777, 1978. [PubMed: 733534]46,XY,t(10;11)(q22;q25).Aberration: Simple translocationIndex Terms: Sterility ... maleNegative band
- Delicado A, Pajares I L, Vicente P, Hawkins F: "Familial translocation t(10;21)(q22;q22)." Hum. Genet. 50:253-258, 1979. [PubMed: 489009]46,XX or XY,der(10)der(21)t(10;21)(q22;q22)mat or pat.,46,XX and XY,der(10)der(21)t(10;21)(10pter->10q22::,21q22->21qter;21pter->21q22::10q22->10qter).Cases 1 and 2 in this report, had features of trisomy 10p.46,XX,-21,+der(10)t(10;21)(q22;q22)mat.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10p+
- Dignan P, Krouskop L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 902 to 905.46,XX and XY,t(10;12)(q22;p13).Aberration: Reciprocal translocationNegative band
- Han J Y, Kim K H, Jun H J, Je G H, Glotzbach C D, Shaffer L G.: Partial trisomy of chromosome 10 (q22-q24) due to maternal insertional translocation (15;10). AJMG DOI=10.1002/ajmg.a.30307, 2004. [PubMed: 15472993]Mother=46,XX,ins(15;10)(q22;q22q24).,Proband=46,XY,der(15)ins(15;10)(q22;q22q24)mat.Studies were undertaken because of severe intrauterine growth retardation. Infant, with MCA, died of sepsis, at 3 months of age.Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 10q+
- Howard-Peebles P N, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 894.46,XY,der(11),t(10;11)(q22;q25)pat.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10q+;11q-
- Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]Case 13:46,XX,dup(10)(q22q26)Aberration: DuplicationChromosomal Aneuploidy: 10q+
- McCorquodale M, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 933 and 934.46,XX,t(10;22)(q22;q13)mat.Aberration: Reciprocal translocationNegative band
- Mori M A, Gomez-Sabrido F, de Bustamante A D, Pinel I, Martinez-Frias M L: De novo 10q23 interstitial deletion. J. Med. Genet. 25:209-210, 1988. [PMC free article: PMC1015491] [PubMed: 3351911]Patient was about 2 1/2 years old.46,XY,del(10)(pter->q22::q24->qter).Aberration: Interstitial deletionChromosomal Aneuploidy: 10q-Negative band
- Same entry as in 04p140,10p130 (Osztovics et al, 1982).
- Pison H, Sele B, Salvat J, Pasquier D, Jalbert H, Jalbert P: Mechanisms producing duplication. Report of 10q22 to q25 duplication. Ann. Genet. 25:137-140, 1982. [PubMed: 6982659]45,XX,t(14q21q)inv(9)(p11q13).&46,XX,dup(10)(q22 -> q25).Aberration: DuplicationChromosomal Aneuploidy: 10q+
- Tzschach A, Bisgaard A-M, Kirchhoff M, Graul-Neumann L M, Neitzel H, Page S, Ahmed A, Muller I, Erdogan F, Ropers H-H, kalscheuer V M, Ullmann R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Europ. J. Hum. Genet. 18: 291-295, 2010. [PMC free article: PMC2987210] [PubMed: 19844253]Patient 1=46,XX,del(10)(q22.1q22.3)dn.,Patient 2=46,XY,arr cgh del(10)(q22)-3.2 Mb.,Patient 3 reported earlier by Tzschach et al (2006).,Patient 4=46,XY,t(10;13)(q22.3;p13)dn.It is suggested that haploinsufficiency of C10orf11 might contribute to MR.Aberration: ID,STChromosomal Aneuploidy: 10q-Index Terms: C10orf11
- Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.46,XX,der(10)t(10;11)(q22;q23)pat.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10q-;11q+Negative band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 10q220.