02p210

2p21

Publication Details

  • Armendares S, Salamanca F: Partial 2p trisomy (p21 to pter) in two siblings of a family with a 2p-:15q+ translocation. Clin. Genet. 13:17-24, 1978. [PubMed: 624187]
    46,XY,rcp(2;15)(p21;q26).
    Cases 1 and 2 (Individuals IV-2 and IV-3 in the pedigree).
    46,XX or XY,der(15)rcp(2;15)(p21;q26)pat.,Both these patients (3 and 4 years old at the time of examination) had multiple congenital anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+
    Negative band

  • Armstrong R, Ellis I, Kightley C, Sethi V D, McCarthy E, Maye U, White G.: Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties. Clin. Dysmorphol. 15: 221-223, 2006. [PubMed: 16957477]
    Mother and son=46,XX,del(2)(p21p22.2).,Patient (son)=46,XY,der del(2)(p21p22.2)mat.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2p-

  • 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;6)(p21;q21); t(2;12)(p21;q13); t(2;16)(p21;p13); inv(2)(p21q13); inv(2)(p21q37).
    Aberration: PI,RT
    Negative band

  • Crandall B, 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. 192.
    46,XX,t(2;5)(p21;q35)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    46,XX,t(2;13)(p21;q14).
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band

  • Estop A M, Cieply K, Munne S, Surti U, Wakim A, Feingold E.: Is there an interchromosomal effect in reciprocal translocation carriers? sperm FISH studies. Hum. Genet. DOI 10.1007/s004390000275, April 18, 2000. [PubMed: 10914681]
    Estop A M, Cieply K M, Wakim A, Feingold E.: Meiotic products of two reciprocal translocations studied by multicolor fluorescence in situ hybridization. Cytogenet. Cell Genet. 83:193-198, 1998. [PubMed: 10072576]
    Estop et al (2000) found an excess of chromosome 21 disomy in carriers than controls.
    Subject 1 was 33 years old:
    46,XY,t(2;18)(p21;q11.2).
    Wife had 5 miscarriages.
    Aberration: Reciprocal translocation

  • Fryns J P, Kleczkowska A, Bulcke I, Van den Berghe H: "Myotonic dystrophy and autosomal balanced translocation t(2;20)(p21;q11)." Clin. Genet. 25:446-448, 1984. [PubMed: 6723105]
    Patient D.H.
    46,XX,t(2;20)(p21;q11).
    Aberration: Simple translocation
    MIM#: 160900
    Index Terms: Myotonic dystrophy
    Negative band

  • Grundy H O, Niemeyer P, Rupani M K, Ward V F, Wassman E R: Prenatal detection of cyclopia associated with interstitial deletion of 2p. AJMG 34:268-270, 1989. [PubMed: 2817010]
    46,XY,del(2)(p21p23)de novo.
    A stillborn infant with synophthalmic cyclopia and alobar holoprosencephaly is reported.
    It is suggested that deletion of 2p results in specific association of abnormalities including cyclopia.
    Aberration: Interstitial deletion
    MIM#: 236100
    Chromosomal Aneuploidy: 2p-
    Index Terms: Cyclop(ia)(s),Holoprosencephaly
    Negative band

  • Hahm G K, Barth R F, Schauer G M, Reiss R, Opitz J M.: Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. AJMG 87:45-48, 1999. [PubMed: 10528246]
    46,XY,der(15)t(2;15)(p21;q26)
    The fetus, aborted at 22 weeks, had minor facial anomalies, musculoskeletal defects, polydactyly and anencephaly.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+;15q-
    Index Terms: Anencepahly,postaxial polydactyly

  • 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,XY,t(2;16)(p21;q23).,46,XX,der(2)der(16)t(2;16)(p21;q23)pat.
    Aberration: Simple translocation
    Negative band

  • Hecht B K, Hecht F, Munke M: Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21. AJMG 40:130, 1991. [PubMed: 1887845]
    Munke M, Emanuel B S, Zackai E H: Holoprosencepahly: association with interstitial deletion of 2p and review of the cytogenetic literature. AJMG 30:929-938, 1988. [PubMed: 3055987]
    46,XX,del(2)(p21p22.2).&Mother:46,X,del(X)(q22q26).
    In addition to holoprosencephaly the patient had incomplete midface development, cyclopia, and proboscis.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2p-
    Index Terms: Holoprosencephaly
    Negative band

  • Hockey A, Crowhurst J, Walpole I: A pedigree study of perinatally lethal renal disease. J. Med. Genet. 23:188-189, 1986. [PMC free article: PMC1049584] [PubMed: 3712403]
    Mother of the patient had these translocations.
    46,XX,t(2;13)(p21;q32), t(5;14)(q33;q32).
    Index Terms: Perinatal death
    Negative band

  • 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. 178.
    46,XY,t(2;3)(p21;p24).
    Aberration: Reciprocal translocation
    Negative 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. 17=46,XX,add(2p).rev ish enh(2p21p23)de novo
    The patient had Morbus cordis and was growth retarded.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 2p+

  • Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]
    46,XX,inv(2)(p21q21).
    Aberration: Inversion pericentric
    Negative band

  • Kohn G: Personal communication, 1978.
    46,XX,t(2;20)(2qter->2p21::20p13->20pter;,20qter->20p13::2p21->2pter).
    Aberration: Reciprocal translocation
    Negative band

  • Kousseff B G, Papenhausen P, Neu R L, Essig Y P, Saraceno C A: Cleft palate and complex chromosome rearrangements. Clin. Genet. 42:135-142, 1992. [PubMed: 1327590]
    Patient 2.
    46,XX,t(2;3)(2pter->2p21::2q32.2->2p21::3p24.2->3pter),(3qter->3p24.2::2q32.2->2qter)de novo,,t(7;18)(q32;q12.2)de novo,del(10)(p13:)de novo.
    There was bilateral complete cleft of the lip and palate, slow pre- and postnatal growth and minor congenital anomalies.
    Aberration: CT,TD
    Index Terms: Cleft lip/palate
    Negative band

  • Kubo T, Kakinuma H, Nakamura T, Kitatani M, Ozaki M, Takahashi H.: Infantile spasms in a patient with partial duplication of chromosome 2p. Clin. Genet. 56:93-94, 1999. [PubMed: 10466424]
    The patient was 5 months old and showed spasms with neck and limb flexion.
    46,XY,inv dup(2)(p22.1p21)de novo
    Infantile spasms has an X-linked entry in MIM.
    Aberration: Duplication
    MIM#: 308350
    Chromosomal Aneuploidy: 2p+
    Index Terms: Infantile spasms

  • Lozzio C B, Klepper M B: Chromosome aberrations identified by the new banding techniques. AJHG 26:55A, 1974.
    t(2;4)(p21;q35)mat.,This familial reciprocal translocation was reported here.
    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 1:
    46,XX,der(4)ins(4;2)(q21;p21p23)pat.
    Neural defects, different forms of "broncho-pulmonary a/hypoplasia'''' were found in these partial trisomy 2p patients.
    Patient 3:
    46,XX,der(11)t(2;11)(p23;q23.3)mat.
    Aberration: IX,ST
    Chromosomal Aneuploidy: 2p+
    Negative band

  • Mayer U, Schwanitz G, Grosse K P, Etzold R: Partial trisomy 2p due to a familial translocation 2/6. Ann. Genet. 23:172-176, 1978. [PubMed: 115372]
    46,XX,t(2;6)(p21;q27).,46,XY,der(2)der(6)t(2;6)(p21;q27)mat.,46,XY,der(6)t(2;6)(p21;q27)pat.,46,XY,der(6)t(2;6)(6pter->6q27::2p21->2pter)pat.
    Patient M.M. showed multiple congenital anomalies including micropthalmus and persistence of primary vitreous body. Characteristic symptoms of 2p trisomy condition, based on comparison with seven other cases, appear to be: abundant lanugo at birth, glabella prominence, anteverted nares, dermatoglyphic anomalies, and malformations of the eyes.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: Eye ... anomalies,Glabella ... prominent,Microphthalmia

  • 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 No. 243.
    46,XX,der(12),t(2;12)(p21;p13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Megarbane A, Souraty N, Theophile D, Chedid P, Auge J, Vekemans M.: Interstitial duplication of the short arm of chromosome 2: report of a new case and review. J. Med. Genet. 34:783-786, 1997. [PMC free article: PMC1051069] [PubMed: 9321771]
    46,XX,dup(2)(p21p24)de novo
    The 18 month old patient had dysmorphic feature including microcephaly, open fontanelles, and eye malformations, psychomotor and growth retardation.
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+

  • Meschede D, Lemcke B, Exeler J R, De Geyter Ch, Behre H M, Nieschlag E, Horst J.: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection- prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 13:576-582, 1998. [PubMed: 9572415]
    Case No. 8:
    46,XX,t(2;12)(p21;q13)
    Indication was a male factor infertility but no reproductive system abnormalities in the carrier female.
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • Neu R L, Miller K, 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. 280.
    46,XX,t(2;18)(p21;q22)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Niss R, Passarge E: Trisomy 8 restricted to cultured fibroblasts. J. Med. Genet. 13:229-234, 1976. [PMC free article: PMC1013398] [PubMed: 180293]
    46,XY,inv(2)(p-q+)(p21q11).,46,XX and XY,der inv(2)(p-q+)mat and pat.,This inversion was found in three generations. One child had trisomy 8 in skin fibroblasts only.
    Aberration: Inversion pericentric
    Negative band

  • Orye E, Benoit Y, Van Mele B: "Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11)." J. Med. Genet. 20:394-396, 1983. [PMC free article: PMC1049160] [PubMed: 6644772]
    46,XY,-5,-22,+t(5;22)(5qter->5q11::22p11->22pter),+i(5p),,inv(2)(p21q11)mat."
    Aberration: Inversion pericentric
    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 No. 182.
    46,XX,t(2;4)(p21;q35)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Parruti G, Di Ilio C, Calabrese G, Stuppia L, Guanciali Franchi P, Aceto A, Palka G: A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. Ann. Genet. 32:55-58, 1989. [PubMed: 2751250]
    Patient P.P.
    46,XX,dup(2)(p21-22).
    Mild mental retardation and some dysmorphic features (auricle) were present.
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+
    Negative band

  • Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E.: The 2p21 deletion syndrome: characterization of the transcription content. Genomics 86:195-211, 2005. [PubMed: 15913950]
    4 males and 3 females in three Bedouin nucelar families.
    46,XX/XY, del(2)(p21).The deletion is of 179,311 bp.
    Deletion includes the type I cystinuria gene SLC3A1, protein phosphatase 1B (formerly 2C) magnesium-dependent, beta isoform gene, an uncharacterized gene (K1AA0436; approved gene symbol PREPL), and several ESTs.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2p-
    Index Terms: Bedouin,Cystinuria

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,t(2;4)(p21;p14).
    Aberration: Reciprocal translocation
    Negative band

  • Roberts A E, Listewnik M, Irons M B, Mulliken J B, Morton C C, Kimonis V E, Lee C.: Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. AJMG DOI=10.1002/ajmg.a.30223; 130A:204-207, 2004. [PubMed: 15372522]
    46,XY,add(9)(p24)de novo.ish der(9)t(2;9)(p21;p24)(wcp2+,wcp9+).
    The 13 month old patient had MCA.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+;9p-

  • San Roman C, Sordo M T, Garcia-Sagredo J M: Meisois in two human reciprocal translocations. J. Med. Genet. 16:56-59, 1979. [PMC free article: PMC1012782] [PubMed: 469888]
    Case 2 (FJD Registry No. 3152/75), 40 years old.
    46,XY,t(2;11)(p21;q25).
    Aberration: Reciprocal translocation
    Negative band

  • Sawyer J R, Jones E, Hawks F F, Quirk J G, Jr, Cunniff C: "Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)." AJMG 49:422-427, 1994. [PubMed: 8160737]
    Schell U, Wienberg J, Kohler A, Bray-Ward P, Ward D E, Wilson W G, Allen W P, Lebel R R, Sawyer J R, Campbell P L, Aughton D J, Punnett H H, Lammer E J, Kao F T, Ward D C, Muenke M.: Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. Hum. Mol. Genet. 5:223-229, 1996. [PubMed: 8824878]
    Case 1(III-3):
    46,XX,del(2)(p21p22.2).&"Mother (II-2):46,XX,dir ins(11;2)(p15.1;p21p22)."&"Half-sister (III-1):46,XX,der dir ins(11;2)(p15.1;p21p22) mat."&"Case 2 (III-2):46,XY,der(11)dir ins(11;2)(p15.1;p21p22.2)mat."
    Ascertained during a routine prenatal amniocentesis. The patient had holoprosencephaly and other anomalies.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 2p-,2p+
    Index Terms: Holoprosencephaly
    Negative band

  • Say B, Carpenter N J, Giacoia G, Jegathesan S: Agenesis of the lung associated with a chromosome abnormality. J. Med. Genet. 17:477-478, 1980. [PMC free article: PMC1885927] [PubMed: 7205432]
    Patient died at 35 days of life.
    46,XX,dup(2)(pter -> p21::p24 -> p21::p21 -> qter).
    Aberration: Direct duplication
    Index Terms: Agenesis of the lung,Lungs ... agenesis
    Negative band

  • Schell U, Wienberg J, Kohler A, Bray-Ward P, Ward D E, Wilson W G, Allen W P, Lebel R R, Sawyer J R, Campbell P L, Aughton D J, Punnett H H, Lammer E J, Kao F T, Ward D C, Muenke M.: Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. Hum. Mol. Genet. 5:223-229, 1996. [PubMed: 8824878]
    46,XX,del(2)(p16p22).
    46,XX,inv ins(2)(p21q24q13).
    46,XY,del(2)(p21p22.1).
    46,XY,del(2)(p21p23).
    46,XY,del(2)(p21).
    46,XY,t(1;2)(p21;p21).
    Aberration: TD,ID,II,RT
    MIM#: 157170
    Chromosomal Aneuploidy: 2q-
    Index Terms: Holoprosencephaly ... HPE2
    Negative band

  • Sekhon G S, Taysi K, Rath R: Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation. Hum. Genet. 44:99-103, 1978. [PubMed: 711241]
    46,XX,t(2;14)(p21;q32).,46,XY,der(2)der(14),t(2;14)(p21;q32)mat.,46,XY,der(14),t(2;14)(p21;q32)mat.,46,XY,der(14)t(2;14)(14pter->14q32::2p21->2pter)mat.,The present case shares most of the findings of the partial trisomy 2p syndrome. Some additional findings not reported previously are hypospadias, hypoplastic kidney, and hydrocephalus.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: Hydrocephalus,Hypospadias,Kidney ... malformations
    Negative band

  • Teshima I, 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. 244.
    46,XY,t(2;12)(p21;p13).
    Aberration: Reciprocal translocation
    Negative band

  • Tho S P T, Byrd J R, McDonough P G: Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome. Fert. Ster. 38:688-694, 1982. [PubMed: 7141010]
    Case 18.
    46,XY,inv(2)(p21q36).
    Aberration: Inversion pericentric
    Negative band

  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    46,XY,t(2;18)(p21;p11).&46,XX,+2p.
    The karyotype description of the fetus is not in conformity with ISCN.
    Aberration: Reciprocal translocation
    Negative band

  • 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,XX,inv(2)(p21q35)t(2;16)(q21;q23)de novo).
    Aberration: Inversion pericentric
    Negative band

  • Voullaire L E, Webb G C: "Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal children." Clin. Genet. 34:313-320, 1988. [PubMed: 3228999]
    Case 2.
    46,XY,(2pter -> 2p25.2::2p21 -> 2q11.2::2p21 -> 2p23.1::2q11.2 -> 2qter)(3pter -> 3p21.1::3p12.2 -> 3q29::2p23.1 -> 2p15.2::3p12.2 -> 3p21.1::3q29 -> 3qter).
    Patient was reported earlier.
    Aberration: Complex translocation
    Negative band

  • Warburton D, 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. 238
    46,XX,t(2;11)(p21;q23).
    Aberration: Reciprocal translocation
    Negative band

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,t(2;11)(p21;q22.1).
    Aberration: Reciprocal translocation
    Negative band

  • Weaver R G, Rao N, Thomas I T, Pettenati M J: De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts. AJMG 40:509-512, 1991. [PubMed: 1746620]
    46,XX,inv(2)(p21q31)de novo.
    At age 3 months the patient was seen for nystagmus, bilateral microphthalmia, and unusual cataracts.
    Aberration: Inversion pericentric
    Index Terms: Microphthalmia,Cataracts,Nystagmus
    Negative band

  • Webb G C, Keith C G, Campbell N T: "Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22)." J. Med. Genet. 25:125-127, 1988. [PMC free article: PMC1015455] [PubMed: 3346886]
    Patient was 4 years old.
    46,XX,del(2)(p21p23.1),t(3;7)(p21.3;q22.1).,46,XX,der(2)(pter->p21::p23.1->qter),der(3)(7qter->7q22.1::,3p21.3 ->3qter), der(7)(7pter->7q22.1::3p21.3->3pter).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2p-
    Negative band