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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- Amor D J, Choo K H A.: Neocentromeres: Role in human disease, evolution, and centromere study. AJHG 71:;DOI=0002-9297/2002/7104; 71:695-714, 2002. [PMC free article: PMC378529] [PubMed: 12196915]
Voullaire L, Saffery R, Davies J, Earle E, Kalitsis P, Slater H, Irvine D V, Choo K H A.: Trisomy 20p resulting from inverted duplication and neocentromere formation. AJMG 85:403-408, 1999. [PubMed: 10398268]47,XX,del(20)(qter->p11.2),+inv dup(20p)de novoThe patient had MCA including CHD and died at the age of 5 years.Formation of a neocentromere on chromosome 20 was demonstrated.Aberration: TD,ICChromosomal Aneuploidy: 20p+Index Terms: Neocentromere - Anad F, Burn J, Matthews D, Cross I, Davison B C C, Mueller R, Sands M, Lillington D M, Eastham E: Alagille syndrome and deletion of 20p. J. Med. Genet. 27:729-737, 1990. [PMC free article: PMC1017275] [PubMed: 2074558]Case 3.46,XX,del(20)(p11.2p12)de novo.Aberration: Interstitial deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Negative band
- Anonymous N I: Pericentric inversions of chromosome 20. Ann. Genet. 29:156, 1986.
Lucas J, LeMee F, Le Marec B, Pluquailec K, Journel H, Picard F: Trisomy 20p resulting from a maternal pericentric inversion and brachymesophalangy of index. Ann. Genet. 28:167-171, 1985. [PubMed: 3879151]Patient Alexandre Le C...,180882, and four other members of this family had the chromosome abnormality.46,XX and XY,inv(20)(p112q133).,46,XY,rec(20),dup(p),del(q),inv(20)(p112q133)mat.Two families are presented PA 7 and RE 1. Three generation data are available.Aberration: PI,REMIM#: 112600Negative band - Byrne J L B, Harrod M J E, Friedman J M, Howard-Peebles P N: del(20p) with manifestations of Arteriohepatic dysplasia. AJMG 24:673-678, 1986. [PubMed: 3740100]An infant patient of about 6 weeks age is described.46,XX,del(20)(p11.2).Aberration: Interstitial deletionMIM#: 118450Negative band
- Chaabouni M, Turleau C, Karboul L, Jemaa L B, Maazoul F, Attie-Bitach T, Romana S, Chaabouni H.: De novo trisomy 20p of paternal origin. AJMG Part A: 143A: 1100-1103, 2007. [PubMed: 17431912]46,XY,der(20)(pter->q13.3::p11.2->pter).The 5 year-old patient presented with dysmorhic features, MR, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidsm, and preaxial hexadactyly.Aberration: DuplicationChromosomal Aneuploidy: 20p+; 20q-
- Chen H, Hoffman W H, Tyrkus M, Al Saadi A A, Bawle E: Partial trisomy 20p syndrome and maternal mosaicism. Ann. Genet. 26:21-25, 1983.mos46,XX/46,XX,-22,+t(20;22)(p11.2;p11.2).,46,XY,-22,+t(20;22)(p11.2;p11.2)mat.Aberration: Simple translocationNegative band
- Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U.: Maternal UPD 20 in a hyperactive child with severe growth retardation. Europ. J. Hum. Genet. 7:533-540, 1999. [PubMed: 10439958]The 3 1/2 year old patient was being evaluated fpr growth retardation and minor dysmorphic facial features.47,XY,+mar.rev ish der(20)(:p11.2+¢q11.2:)[20]/46,XY[28] in blood.The patient''s IQ was 97 (Kramer-test). His neurologic and motor development was normal.Mother was 40 years old.Aberration: Uniparental disomyChromosomal Aneuploidy: 20+
- Czeizel A: Scope of Alagille syndrome. AJMG 39:225, 1991. [PubMed: 2063929]
Legius E, Fryns J P, Eyskens B, Eggermont E, Desmet V, de Bethune G, Van den Berghe H: Alagille syndrome (Arteriohepatic dysplasia) and del(20)(p11.2). AJMG 35:532-535, 1990. [PubMed: 2333885]Patient D.C.46,XY,del(20)(qter -> p11.2)de novo.The patient had Alagille syndrome including arteriohepatic dysplasia, developmental and growth delay, club feet, and cleft palate.Aberration: Terminal deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Index Terms: Arteriohepatic dysplasiaNegative band - Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V.: Apparent Sotos syndrome (Cerebral Gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. AJMG 91:273-276, 2000. [PubMed: 10766982]46,XY,dup(20)(p11.2p12.1)[12]/46,XY[66].The 4 year old child was referred for overgrowth, facial anomalies, and psychomotor retardation.Aberration: DuplicationMIM#: 117550Chromosomal Aneuploidy: 20p+Index Terms: Sotos syndrome,Cerebral Gigantism
- Molina-Gomes D, Nebout V, Daikha-Dahmane F, Vialard F, Ville Y, Selva J.: Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling. Prenat. Diag. 26: 239-241, 2006. [PubMed: 16485319]Mother=46,XX,inv(20)(p11.2;q13.3).,Fetus=46,XY,der(20),inv(20)(p11.2q13.3)mat,ish der(20)(WCP20+,tel 20p x 2,tel 20q x 0).Prenatal diagnosis because of increased nuchal translucency thickness at 12 weeks.Aberration: PI,REChromosomal Aneuploidy: 20p+
- Teebi A S, Krishna Murthy D S, Ismail E A R, Redha A A: Alagille syndrome with de novo del(20)(p11.2). AJMG 42:35-38, 1992. [PubMed: 1308363]Patient THG.46,XY,del(20)(qter -> p11.2:)de novo.Patient was 8 months old with facial features of the syndrome.Aberration: Terminal deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Index Terms: Alagille syndromeNegative band
- 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,-21,+der(21)t(20;21)(p11.2;q22.3)pat.Aberration: Reciprocal translocationChromosomal Aneuploidy: 20p+;21q-Negative band
- Willimas P G, Wetherbee J J, Rosenfeld J A, Hersh J H.: 20p11 deletion in a female child with panhypopitutarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. AJMG Part A: 155: 186-191, 2011. [PubMed: 21204230]Aberration: Interstitial deletionChromosomal Aneuploidy: 20p-
- 20p112 - Chromosomal Variation in Man20p112 - Chromosomal Variation in Man
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