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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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02p230

2p23
  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case 3=46,XY,der(4)ins(2;4)(p23;q25q28.2)mat.
    Mother was 32 years old. Ultrasound examination showed short limbs, small stomach, polyhydramnios, overlapping fingers, and IUGR. There was fetal demise at 38 weeks. Short limbs and club feet were found during gross examination.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 4q-
  • Al-Saffar M, Lemyre E, Koenekoop R, Duncan A M V, Der Kaloustian V M.: Phenotype of a patient with pure partial trisomy 2p(p23->pter). AJMG 94:428-432, 2000. [PubMed: 11050631]
    Al-Saffar M, Lemyre E, Koenekoop R, Duncan A M V, Der Kaloustian V M.: Reply to the letter to the editor by Willatt - "partial trisomy of 2p and neuroblastoma". AJMG 102:305, 2001.
    46,XX,der(13)t(2;13)(p23;p11.2).ish der(13)(wcp2+)de novo
    The 7 month old patient had MCA.
    Aberration: Simple translocation
    MIM#: 256700
    Chromosomal Aneuploidy: 2p+
    Index Terms: Neuroblastoma
  • Armstrong L, Allanson J E, Weaver D D, Bevan C J, Hobart H H.: Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37. AJMG DOI=10.1002/ajmg.a.30502; 134A:299-304, 2005. [PubMed: 15742366]
    Patient 1:46,XY,rec(2)dup(2p)inv(2)(p23q37)mat.ish rec(2)(pcp2pter+,MYCN+,pcp2qter+,MYCN+,pcp2pter+).,Patient 2:46,XX,der(2)(pter->q37.3::p23->pter)de novo.ish der(2)dup(2p24.1)(wcp2+,MYCNx2).
    Patient 1 died at the age of 2 years. Patient 2, is now in her early teens. Both ha(d)(ve) frontal bossing; abnormally formed, low-set and posteriorly rotated ears; redundant nuchal skin; inversion of the nipple(s); fleshy fingertips with rpominent pads; a sacral dimple; significant developmental delay/mental retardation; and G-tube dependency.
    Patient 1 and 2 have a duplication of distal 2p material (2p23 to pter) and a deletion of distal 2q material (2q37.3 to qter).
    Aberration: PI,RE
    Chromosomal Aneuploidy: 2p+;2q-
  • Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H.: Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. AJMG 91:74-82, 2000. [PubMed: 10751094]
    Case 1 (from Tel-Hashomer) was 9 months old and referred because of developmental delay.
    46,XX,der(2)dup(2)(p23->p25.2::p25.2->qter)de novo.
    Case 2 (from Marburg): a fetus.
    46,XY,der(2)ins(2)(pter->p21::p22->p16::p21->qter)de novo
    Case 3 (from Marburg) a fetus from 1993 of 24 weeks gestation.
    46,XY,der(21)t(2;21)(p24;p11.1)de novo
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 8:
    t(2;21)(p23;q22)pat.,Fetal karyotypes were 46,XX and XY,t(2;21).
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band
  • Barsel G, 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. 254 and 255.
    46,XX,-13,+der(13),t(2;13)(p23;q21)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Berend S A, Bodamer O A F, Shapira S K, Shaffer L G, Bacino C A.: Familial complex chromosomal rearrangement resulting in a recombinant chromosome. AJMG DOI=10.1002/ajmg.10334;109:311-317, 2002. [PubMed: 11992486]
    Propositus=46,XY,rec(3q)t(3;8;16)(p24.2;q22.2;q22)t(3;5)(q21;q13.3)mat,der(8)t(3;8;16)mat,der(16)t(3;8;16)mat.,Mother=46,XX,inv(2)(p23q37.1),der(3)t(3;8;16)(p24.2;q22.2;q22)t(3;5),der(8)t(3;8;16),der(16)t(3;8;16)
    The newborn was ascertained because of MCA.
    Aberration: PI,CT,RE
  • 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(2;14)(p23;q31).
    Aberration: Reciprocal translocation
    Negative band
  • Brondum-Nielsen K, Christensen K.: Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and /or mental disability. A survey based on the Danish Facial Cleft Register. Clin. Genet. 50:116-120, 1996. [PubMed: 8946108]
    Case B:
    46,XY,t(2;12)(p23;q15)de novo,ish(DO832x2)
    No deletion for 22q was observed with the probe used.
    Aberration: Simple translocation
    Negative band
  • Cassidy S B, Heller R M, Chazen E M, Engel E: The chromosome 2 distal short arm trisomy syndrome. J. Ped. 91:934-938, 1977. [PubMed: 925823]
    46,XX and XY,der(2)der(3),t(2;3)(p23;p27)mat.
    Patients C.J., III-15; M.J.IV-5; and M.T.IV-4 in this report.
    46,XY,der(3),t(2;3)(p23;p27)mat and pat.,46,XY,der(3),t(2;3)(3qter->3p27::2p23->2pter)mat and pat.
    Patients with trisomy of 2p seem to have severe mental and growth retardation, a characteristic facial dysmorphism particularly affecting the eyes, abnormalities of the sternum, and digits, a heart defect, and, in males, cryptorchidism and a striking genital anomaly consisting of a very small penis buried in dorsally fused scrotal skin.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: Congenital heart defects (cardiovascular anomalies),Cryptorchidism, (see also Testes, undescended),Eye ... anomalies,Facial dysmorphism,Genitalia ... anomalies,Penis ... hypoplastic (microphallus)
    Negative band
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    46,XX,der(2)t(2;7)(p23;q23).
    Associated malformations noted were lymphoid hyperplasia, abnormal facial features, renal hypoplasia.
    Aberration: Simple translocation
    Negative band
  • Dolan C, Vigfusson N V, 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. 228
    46,XY,t(2;10)(p23;q26).
    Aberration: Reciprocal translocation
    Negative band
  • Elder F F, 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. 183.
    46,XX,t(2;4)(p23;q25)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Emanuel B S, Zackai E H, Van Dyke D C, Swallow D M, Allen F H, Mellman W J: Deletion mapping: Further evidence for the location of acid phosphatase(ACP1) within 2p23. AJMG 4:167-172, 1979. [PubMed: 293131]
    Neidich J, Zackai E H, Aronson M M, Emanuel B S: Deletion of 2p: A cytogenetic and clinical update. AJMG 27:707-710, 1987. [PubMed: 3477100]
    Zackai E H: Cytogenet. Cell Genet. 18:108, 1977.
    Patient 1,SC081773, with multiple congenital anomalies, died at 20 months. Parents had normal chromosomes.
    46,XX,del(2)(p231p251).
    Patient 2,JG032874, is 4 years old. He has multiple anomalies. Mother has normal chromosomes.
    46,XY,del(2)(p23p251).
    Aberration: Interstitial deletion
    MIM#: 171500
    Chromosomal Aneuploidy: 2p-
    Negative band
  • Ferguson-Smith M A, Newman B F, Ellis P M, Thomson D M G, Riley I D: Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nature (New Biol.) 243:271-274, 1973. [PubMed: 4515493]
    Family BE in this report.
    46,XX,t(2;5)(p23;q31).,46,XX,t(2;5)(2qter->2p23::5q31->5qter;5pter->5q31::2p23->2pter).46,XX and XY,der(2)der(5)t(2;5)(p23;q31)mat.,46,XY,der(2)t(2;5)(p23;q31)mat.
    Aberration: Simple translocation
    MIM#: 171500
    Chromosomal Aneuploidy: 2p-
    Negative band
  • Fineman R M, Buyse M, Morgaon M: Variable phenotype associated with duplication of different regions of 2p. AJMG 15:451-456, 1983. [PubMed: 6881212]
    46,XX,t(2;15)(p23;p11).
    Patient 1.
    46,XX,der(15)t(2;15)(15qter -> 15p11::2p23 -> 2pter)mat.
    Aberration: Simple translocation
    Negative band
  • Francke U, Jones K L: "The 2p partial trisomy syndrome. Duplication of region 2p23 to 2pter in two members of a t(2;7) translocation kindred." AJDC 130:1244-1249, 1976. [PubMed: 984008]
    Individual I-2 in the pedigree.
    46,XX,t(2;7)(2qter->2p23::7q36->7qter;7pter->7q36::2p23->2pter).
    Individuals II-2, II-5, II-13, III-3, III-4, IV-8, III-13 and IV-3 in the pedigree.
    46,XX and XY,der(2)der(7)t(2;7)(p23;q36)mat and pat.
    Individuals IV-1 (case 1) and III-12 (case 2) in the pedigree.
    46,XX and XY,der(7)t(2;7)(p23;q36)mat.,The 2p partial trisomy syndrome is characterized by mental and growth retardation, high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia and overconstriction of the shafts of all long bones.
    Aberration: Reciprocal translocation
    Index Terms: Dolichostenomelia,Forehead ... bulging,Forehead ... high, convex,Genitalia ... hypogenitalism,Glabella ... prominent,Maxilla ... hypoplastic,Ptosis,Subluxation ... interphalangeal joints
    Negative band
  • Hansteen I L, Varslot K, Steen-Johnson J, Langard S: Cytogenetic screening of a newborn population. Clin. Genet. 21:309-314, 1982. [PubMed: 7116675]
    46,XX,inv(2)(p23q12)pat.
    Aberration: Inversion pericentric
    Negative band
  • Hsu 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 No. 1077.
    46,XX,t(2;13)(p23;q11).&"47,X?,+der(13),t(2;13)(p23;q11)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Osztovics M K, Kiss P: "Familial translocation, t(2;5)(p23;q31)." Clin. Genet. 8:112-116, 1975. [PubMed: 1175316]
    46,XY,rcp(2;5)(2qter->2p23::5q31->5qter;,5pter->5q31::2p23->2pter).,46,XX and XY,der(2)der(5)rcp(2;5)(p23;q3)pat.
    The first affected girl died at 17 years of age. The second child with heart problems is now 16 1/2 years old.
    Cases E.K. (161166) and A.K. (250773) in this report.
    46,XX,der(2)rcp(2;5)(p23;q31)pat.,These two patients are trisomic for chromosome segment 5q31->5qter and monosomic for 2p23->2pter.
    Aberration: Reciprocal translocation
    Negative band
  • Lurie I W, Ilyina H G, Gurevich D B, Rumyantseva N V, Naumchik I V, Castellan C, Hoeller A, Schinzel A.: Trisomy 2p: analysis of unusual phenotypic findings. AJMG 55:229-236, 1995. [PubMed: 7717424]
    Patient 2:
    46,XX,der(4)t(2;4)(p23;q35)mat.
    One and one-half year old patient was karyotyped because of psychomotor delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Negative band
  • Magenis R E, Koler R D, Lovrien E, Bigley R H, Duval M C, Overton K M: Gene dosage: Evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2. PNAS 72:4526-4530, 1975. [PMC free article: PMC388755] [PubMed: 1060135]
    46,XY,t(2;18)(p23;p11).,46,XX,-18,+der(18)t(2;18)(p23;p11)pat.,46,XX,der(18)t(2;18)(18qter->18p11::2p23->2pter)pat.,Elevated levels of activity of erythrocyte acid phosphatase was found. The nine-month-old patient had deep set eyes, epicanthal folds, a wide nasal bridge, variable left esotropia, bilateral nasolacrimal duct obstruction, pale optic discs, redundant skin of the posterior neck, widely spaced nipples, long tapered digits, whorl patterns on all fingers and was lethargic and hypotonic.
    Aberration: Simple translocation
    MIM#: 171500
    Index Terms: Epicanthal folds,Erythrocyte acid phosphatase,Esotropia ... alternating,Eye ... deep set,Fingers ... long,Fingers ... tapered,Hypotonia,Neck ... loose posterior skin folds
    Negative band
  • Neu R L, Dennis N R, Fisher J E: "Partial 2p trisomy in a 46,XY,der(5),t(2;5)(p23;p15)pat infant;autopsy findings." Ann. Genet. 22:33-34, 1979.
    Karyotypes of the paternal grandparents were normal.,46,XY,t(2;5)(p23;p15).
    Aberration: Simple translocation
    Negative band
  • Palmer C, 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. 221 and 222
    46,XY,t(2;8)(p23;p21)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Patel J S, Pearson J, Willatt L, Andrews T, Beach R, Green A.: Germline duplication of chromosome 2p and neuroblastoma. J. Med. Genet. 34:949-951, 1997. [PMC free article: PMC1051129] [PubMed: 9391895]
    Willatt L R, Pearson J, Green A J.: Letter to the Editor- Partial trisomy of 2p and neuroblastoma. AJMG 102:304, 2001. [PubMed: 11484212]
    46,XY,der(13)t(2;13)(p23;q34).
    The child developed a fatal neuroblastoma which was confirmed at necropsy (died at age 17 months).
    FISH with the cosmid probe pNb101 showed duplication including the NMYC locus at 2p23-4.
    Aberration: Simple translocation
    MIM#: 256700
    Chromosomal Aneuploidy: 2p+
    Index Terms: Neuroblastoma
  • Penchaszadeh V B, Dowling P K, Davis J G, Schmidt R, Wapnir R A: Interstitial deletion of chromosome 2 (p23p25). AJMG 27:701-706, 1987. [PubMed: 3477099]
    Parental karyotypes were normal.
    46,XY,del(2)(p23p25).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2p-
    Negative band
  • Rosenfeld W, Verma R S, Jhaveri R C, Dosik H, Evans H: Partial duplication for the short arm of chromosome 2: the 2p23 to pter syndrome. Ann. Genet. 25:28-31, 1982. [PubMed: 6979296]
    46,XY,t(2;20)(p23;q13).
    Patient was 3 months old.
    46,XY,-20,+der(20)t(2;20)(20pter->20q13::2p23->2pter)pat.
    Aberration: Simple translocation
    Negative band
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XX,t(2;4)(p23;p14).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Schmidt R, 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. 1219.
    46,XX,inv(2)(p23q23)mat.
    Aberration: Inversion pericentric
    Negative band
  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Patients 17 (mother of 18) and 18 were ascertained during prenatal diagnostic work-up and family follow-up.
    46,XX,t(2;17;8)(p23;p11.2;p12)
    Aberration: Complex translocation
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XY,t(2;11)(p23;p15)de novo.
    Aberration: Simple translocation
    Negative band
  • Wakita Y, Narahara K, Tsuji K, Yokoyama Y, Ninomiya S, Murakami R, Kikkawa K, Seino Y: De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies. Hum. Genet. 88:596-598, 1992. [PubMed: 1551663]
    46,XX,t(2;3;11;12)(11qter -> 11q13.1::2p23 -> 2q13::2p23 -> 2pter;2qter -> 2q21.1::3p23 -> 3qter;11pter -> 11q13.1::3p23 -> 3pter; 12pter -> 12q24.1::2q13 -> 2q21.1::12q24.1 -> 12qter)de novo.
    Aberration: Complex translocation
    Index Terms: Twins ... identical,Complex chromosomal rearrangement
    Negative band
  • Winsor S H M, McGrath M J, Khalifa M, Duncan A M V.: A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis. Prenat. Diag. 17:665-669, 1997. [PubMed: 9249868]
    Mother=46,XX,t(2;5)(p23;p15).,Proband=46,XY,der(5)t(2;5)(5qter->5p15::2p23->2pter)mat.,Fourth pregnancy and a normal boy=46,XY,der t(2;5)mat.
    Both the proband and another fetus were anencephalic. Three normal children of whom two are translocation carriers.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: NTD
    No band
  • Yuksel A, Seven M, Karaman B, Yilmaz S, Deviren A, Hacihanefioglu S, Basaran S, and see Corrigenda. : Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation. Clin. Dysmorph. 11:39-42 and 154, 2002. [PubMed: 11822704]
    46,XX,der(17)t(2;17)(p23;q25)de novo.
    At 1 year of age the patient with MCA including microcephaly, hypertelorism, a short philtrum, low set ears, a narrow high arched palate, micrognathia, and growth retardation was evaluated. Three years later ecchymotic spots appeared around the left ocular region. The patient died at age 4 with the diagnosis of neuroblastoma.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+;17q-
    Index Terms: Neuroblastoma (NB)
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106395
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