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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- Aleck K A, Argueso L, Stone J, Hackel J G, Erickson R P.: True hermaphroditism with partial duplication of chromosome 22 and without SRY. AJMG 85:2-4, 1999. [PubMed: 10377005]
Erickson R P, Skinner ZS, Jacquet H, Campion D, Buckley P G, Mantripragada K K, Dumanski J P.: Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. AJMG 123A:64-67, 2003. [PubMed: 14556248]Mother=46,XX,inv(22)(p13q13.1).,Proband=46,XX,rec(22)dup(22q)inv(22)(p13q13.1)mat.There was no evidence of SRY in the patient.,Patient MM was a phenotypic male.46,XX,del(22)(q11.2).Aberration: PI,REChromosomal Aneuploidy: 22q+Index Terms: True hermaphroditism,SRY - Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A.: Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. AJMG DOI=10.1002/ajmg.a.30276; 130A:196-199, 2004. [PubMed: 15372517]46,XY,r(22)(p13q13.32)de novo.ish(RP5-925J7-, CTA-722E9-, ARSA-)A 3.9 year-old boy with hypotonia, profound MR, severe speech delay, behavioral problems, and minor dysmorphic features is described.Aberration: Ring chromosomeChromosomal Aneuploidy: 22q-
- Boyd L J, Livingston J S, Brown M G, Lawce H J, Gilhooly J T, Wildin R S, Linck L M, Magenis R E, Pillers De-A M.: Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. AJMG DOI=10.1002/ajmg.a.30895, 2005. [PubMed: 16177985]46,XX,rec(22)dup(22q)inv(22)(p13q13.1)mat.The 5 year old patient had MCA.Aberration: PI,REChromosomal Aneuploidy: 22q+
- Cantu J M, Hernandez A, Vaca G, Plascencia M L, Martinez-Basalo C, Ibarra B, Rivera H: "Trisomy 22q12 to qter: ""Aneusomie de recombinaison"" of a pericentric inversion." Ann. Genet. 24:37-40, 1981. [PubMed: 6971616]46,XX and XY,inv(22)(p13q12)mat and pat.&46,XX,rec(22),dup q,inv(22)(p13q12)mat.Patient was 10 days old with trisomy for segment 22q12 to 22qter.Aberration: Inversion pericentricVariable band
- Chen C-P, Chern S-R, Chang T-Y, Lee C-C, Chen L-F, Tzen C-Y, Wang W, Lin C-J, Yang B P T, Yang L S T.: Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. Prenat. Diag. 23:40-43, 2003. [PubMed: 12533811]45,XX,-22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]mat.Aberration: Ring chromosomeChromosomal Aneuploidy: 22q-
- Christodoulou J, Bankier A, Loughnan P: Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. AJMG 37:422-424, 1990. [PubMed: 2260575]Patient A.M.46,XY,r(22)(p13q13.3).Aberration: Ring chromosomeMIM#: 145410Variable band
- Fujimoto A, Wilson M G, Towner J W: Duplication of the segment q12.2 to qter of chromosome 22 due to paternal inversion 22 (p13q122). Hum. Genet. 63:82-84, 1983. [PubMed: 6832783]46,XY,inv(22)(p13q122).&46,XY,rec(22)dup q inv(22)(p13q122)pat.Aberration: PI,REVariable band
- Gabarron J, Glover G, Jimenez A, Lamata E: "Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter to q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and ""cat eye"" phenotypical features." Clin. Genet. 28:509-515, 1985. [PubMed: 3865751]Patient was 6 years old with multiple congenital anomalies.47,XY,+psu i dic(22)(Yqter -> Yq12::22p13 -> 22q11::22q11 -> 22p13::Yq12 -> Yqter),t(22;Y)(p13;q12)mat.Aberration: Dicentric chromosomeChromosomal Aneuploidy: 22pter to 22q11 tetrasomyIndex Terms: Cat's eye syndromeVariable band
- Giussani U, Facchinetti B, Cassina G, Zuffardi O.: Mitotic recombination among acrocentric chromosomes'' short arms. Ann. Hum. Genet. 60:91-97, 1996. [PubMed: 8839124]The jumping behaviour of bright fluorescent chromosome 22 satellites in three cases, including one mother and her child was studied.Aberration: Marker chromosomeVariable band
- Kadotani T, Kanata S, Watanabe Y, Kurosaki N, Kumada T, Toi O: A case of a ring chromosome No. 22 with mental retardation. Proc. Jpn. Acad. (Ser. B) 63:93-95, 1987.Propositus was a 29 year old mentally retarded male.46,XY,r(22)(p13q13).Aberration: Ring chromosomeVariable band
- Kirkels V G H J, Hustinx T W J, Scheres J M J C: "Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter." Clin. Genet. 18:456-461, 1980. [PubMed: 7449187]45,XX,t(22;22)(p13;q11)&There were 17 spontaneous abortions in this mother (10) and daughter (7).Aberration: Robertsonian translocationsIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Variable band
- Nakagome Y, Kitagawa T, Iinuma K, Matsunaga E, Shinoda T, Ando T: Pitfalls in the use of chromosome variants for paternity dispute cases. Hum. Genet. 37:255-260, 1977. [PubMed: 885544]A huge "satellite" (22s+) was observed in a mentally retarded and malformed girl. It consisted of constitutive heterochromatin based on the C-band technique (CBG). In neither of the parents was the variant observed. Genetic marker studies revealed that the father was, indeed, the father of the proposita (probability, 99.8%).&It is emphasized (with other cases cited) that caution must be taken in the use of chromosome variants for paternity dispute cases.Aberration: Marker chromosomeVariable band
- Naritomi K, Hirayama K: Determination of the breakpoints and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique , quinacrine and silver stainings. Jpn. J. Hum. Genet. 33:67-73, 1988. [PubMed: 2455825]46,XX,r(22)(p13q13.3).Patient was 2 years old and parental karyotypes were normal. Anomalies included mild synophrys, epicanthal folds, cleft soft palate, high-arched palate, low nasal bridge, thick full lips, micrognathia, small umbilical hernia, clinobrachydactyly of 5th fingers, bilateral cutaneous syndactyly between 2nd and 3rd toes and hypotonia.Aberration: Ring chromosomeVariable band
- Rivera H: 22q distal duplication syndrome. AJMG 34:616, 1989. [PubMed: 2636888]
Rivera H, Garcia-Esquivel L, Romo M G, Perez-Garcia G, Martinez Y Martinez R: The 22q distal trisomy syndrome in a recombinant child. Ann. Genet. 31:47-49, 1988. [PubMed: 3258493]Patient was 4 months old.46,XY,rec(22),dup q,inv(22)(p13q12)mat.Aberration: RE,PIChromosomal Aneuploidy: 22q+Variable band - Tonk V S, Jesurun C A, Morgan D L, Lockhart L H, Velagaleti G V N.: Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22)(p13q12.2). AJMG DOI=10.1002/ajmg.a.20384; 124A:92-95, 2003 and 2004. [PubMed: 14679594]Mother=46,XX,inv(22)(p13q12.2).,Proband=46,XY,rec(22)dup(22)(p13q12.2)mat.The newborn infant was being evaluated for MCA.Studies suggest that the inversion breakpoint is proximal to ARSA locus in 22q13.3, but distal to BCR at 22q11.2 and D22S553, D22S609, and D22S942 loci. The proband has copies of ARSA locus and partial trisomy for the 22q12.2->qter region. Comment has been made of inv(22) cases have been Mexican (from the Guadalajara region) in origin.Aberration: PI,REChromosomal Aneuploidy: 22q+Index Terms: Mexican
- Wenger S L, Boone L Y, Cummins J H, Del Vecchio M A, Bay C A, Hummel M, Mowery-Rushton P A.: Newborn infant with inherited ring and de novo interstitial deletion on homlogous chromosome 22s. AJMG 91:351-354, 2000. [PubMed: 10766997]46,XY,r(22)(p13q13.3)mat.ish del(22)(q11.2q11.2)(D22S75-)de novoBoth parents function in the mildly mentally retarded range. The infant had microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch.Aberration: RI,IDMIM#: 188400Chromosomal Aneuploidy: 22q-
- 22p130 - Chromosomal Variation in Man22p130 - Chromosomal Variation in Man
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