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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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04q250

4q25
  • 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 9=46,XY,inv(12)(p11.2q15)de novo,ins(12;4)(q15;q25q27)de novo.
    Mild ventriculomegaly was noted 11.3mm. D & E was performed but nonrevealing autopsy.
    Aberration: PI,IX
  • Andrle M, Erlach A, Rett A: Partial trisomy 4q in two unrelated cases. Hum. Genet. 49:179-183, 1979. [PubMed: 468248]
    Case 1 in this report.
    46,XY,t(4;18)(q25;pter or p11).&"46,XX,-18,+der(18)t(4;18)(q25;pter or p11)pat."
    Case 2 in this report.
    46,XX,t(4;11)(q25;qter or q25)mat.&"46,XX,-11,+der(11)t(4;11)(q25;qter or q25)mat."
    Aberration: Simple translocation
    Negative band
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 17933 in this report.
    46,XX,t(4;15)(q25;q23).&"46,XX,t(4;15)(4pter -> 4q25::15q23 -> 15qter;15pter -> 15q23::4q25 -> 4qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Becker S A, Popp S, Rager K, Jauch A.: A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Europ. J. Pediat. DOI=10.1007/s00431-003-1161-7; 162:267-270, 2003. [PubMed: 12647202]
    46,XX,del(4)(q25q27)de novo
    The 12 year old patient has features of Rieger syndrome including mild craniofacial dysmorphisms, iris coloboma, and umbilical hernia.
    Aberration: Interstitial deletion
    MIM#: 180500
    Chromosomal Aneuploidy: 4q-
    Index Terms: Rieger syndrome
  • Same entry as in 01q430,03p250 (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(4;10)(q25;q26); t(4;18)(q25;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    46,XX,t(4;18)(q25;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Chudley A E, Verma M R, Ray M, Riordan D: Interstitial deletion of the long arm of chromosome 4. AJMG 31:549-551, 1988. [PubMed: 3228137]
    46,XX,del(4)(q25q27).
    Patient was 4 years old with MCA/MR.
    Parents were unavailable for study.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Negative band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 0092 in this report.
    46,XY,der(12),t(4;12)(q25;p13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Elghezal H, Sendi H S, Monastiri K, Lapierre J M, Romdhane S I, Mougou S, Saad A.: Large duplication 4q25-q34 with mild clinical effect. Ann. Genet. 47:419-422, 2004. [PubMed: 15581841]
    46,XY,dup(4)(pter->q34::q25->q34::q34->qter)de novo
    A 5-year-old Tunisian boy with dysmorphic features, mild MR limited in delayed and poor language acquisition is reported.
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
    Index Terms: Tunisia(n)
  • Flomen R H, Gorman P A, Vatcheva R, Groet J, Barisic I, Ligutic I, Sheer D, Nizetic D.: Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J. Med. Genet. 34:191-195, 1997. [PMC free article: PMC1050891] [PubMed: 9132488]
    Family A:
    46,XX,del(4)(q25q27)
    Family B:
    Individual II-1:46,XX,t(4;12)(q25;q15).,Individual III-1:46,XY,der t(4;12)mat.
    Both patients had RS.
    Aberration: Reciprocal translocation
    MIM#: 180500
    Index Terms: Rieger syndrome
    No band
  • Kamnasaran D, O''Brien P C, Zackai E H, Muenke M, Ferguson-Smith M A, Cox D W. : Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. Europ. J. Hum. Genet. 11:315-324, 2003. [PubMed: 12700605]
    46,XY,t(4;14)(q25;q13).
    The translocation breakpoint junction was found within the third intron of the MIPOL1 gene at 14q13, and on chromosome 4q25 between the markers D4S2449 and Q9H1. A 3.9 kb deletion, on 4q25, that deleted exons 6 and 7 of the PITX2 gene was found.
    Aberration: ST,ID
    Index Terms: PITX2,MIPOL1
  • Kim H J, Hsu L Y F, Paciuc S, Cristian S, Quintana A, Hirschhorn K: Cytogenetics of fetal wastage. NEJM 293:844-847, 1975. [PubMed: 1177974]
    Kim H J, Kousseff B G, Hsu L Y F, Hirschhorn K: Balanced translocation in fetal wastage. Obst. Gynecol. 45:220-222, 1975. [PubMed: 1118098]
    Kousseff B G, Kim H J, Hsu L Y F, Hirschhorn K, Miller R C, Greene A E, Coriell L L: "A (4;11) translocation, balanced, 46 chromosomes. Repository identification No. GM-380." Cytogenet. Cell Genet. 14:150-151, 1975. [PubMed: 1149495]
    Lebo R V, Kan Y W, Cheung M C, Carrano A V, Yu L C, Chang J C, Cordell B, Goodman H M: Assigning the polymorphic human insulin gene to the short arm of chromosome 11 by chromosome sorting. Hum. Genet. 60:10-15, 1982. [PubMed: 6281170]
    Case II-2, DA (270139) in this report.
    46,XX,rcp(4;11)(q25;q13).&"46,XX,rcp(4;11)(4pter -> 4q25::11q13 -> 11qter;11pter -> 11q13::4q25 -> 4qter)."
    Cases III-2 and III-3 in this report.
    46,XY,-4,-11,+der(4) +der(11) rcp(4;11)(q25;q13)mat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • 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 4:
    46,XX,der dup(4)(q25q33)mat
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
    No band
  • Kulharya A S, Maberry M, Kukolich M K, Day D W, Schneider N R, Wilson G N, Tonk V.: Interstital deletiond 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. AJMG 55:165-170, 1995. [PubMed: 7717415]
    Patient 1:
    46,XY,del(4)(q21.1q25)de novo.
    Prenatal karyotyping was done because of polyhydramnios. The infant had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus.
    Patient 2:
    46,XX,del(4)(q25q27).
    The patient had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay.
    Aberration: Interstitial deletion
    MIM#: 180500
    Chromosomal Aneuploidy: 4q-
    Index Terms: Rieger syndrome
    Negative band
  • Macgregor D J, Imrie S, Tolmie J L: Outcome of de novo balanced translocations ascertained prenatally. J. Med. Genet. 26:590-591, 1989. [PMC free article: PMC1015701] [PubMed: 2810345]
    Proband 3.
    t(4;18)(q25;p11.2).
    Clinically normal at age 2.5 years.
    Aberration: Reciprocal translocation
    Negative band
  • Makita Y, Masuno M, Imaizumi K, Yamashita S, Ohba S, Ito D, Kuroki Y.: Rieger syndrome with de novo reciprocal translocation t(1;4)(q23.1;q25). AJMG 57:19-21, 1995. [PubMed: 7645592]
    46,XY,t(1;4)(q23.1;q25).
    The manifestations included irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia.
    Aberration: Reciprocal translocation
    MIM#: 180500
    Index Terms: Rieger syndrome
    Negative band
  • Mikelsaar R V, Lurie I W, Ilus T E.: "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation. J. Med. Genet. 33:344-345, 1996. [PMC free article: PMC1050589] [PubMed: 8730295]
    46,XX,-22,+der(22),t(4;22)(22qter->22p11::4q25->4qter)de novo.
    The 1 1/2 year old patient had MCA and at 7 years of age was severely mentally retarded.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+
    Negative band
  • Mohandas T K, Kaback M 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. 462.
    46,XX,t(4;10)(q25;q22)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Najafzadeh T M, Littman V A, Dumars K W: "Familial t(4;13) with abnormal offspring in three generations." AJMG 16:15-22, 1983. [PubMed: 6638065]
    46,XX and XY,t(4;13)(q25;q32).
    Patient G.M. died shortly after birth.
    46,XX,-13,+der(13)t(4;13)(13pter -> 13q32::4q25 -> 4qter)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Narahara K, Kodama Y, Kanzaki S, Yabuuchi H, Kimura S, Kimoto H: "Partial trisomies 9 and 4 resulting from maternal translocation (4;9)(q25?;q13)." Jpn. J. Hum. Genet. 26:47-54, 1981. [PubMed: 7265542]
    47,XX,+der(9),t(4;9)(9pter -> 9q13::4q25? -> 4qter)mat.
    Aberration: Simple translocation
    Negative band
  • Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Nielsen J, Rasmussen K, Lassen L B, Christiansen F: A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation. Hum. Genet. 32:343-348, 1976. [PubMed: 939554]
    Case No. 13385 in this report.
    46,XX,der(4)der(13)t(4;13)(q25;q31)mat.&Two siblings, one brother (IV-1) and one sister (IV-3), have the unbalanced rearrangement.&"46,XX and XY,-13,der(13),t(4;13)(q25;q31)mat."
    Proband (IV-2), her mother (III-4) and maternal grandmother (II-2) have the translocation in a balanced form.
    46,XX,t(4;13)(q25;q31).&"46,XX,t(4;13)(4pter -> 4q25::13q31 -> 13qter;13pter -> 13q31::4q25 -> 4qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Ogilvie C M, Raymond F L, Harrison R H, Scriven P N, Docherty Z.: A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. J. Med. Genet. 35:234-237, 1998. [PMC free article: PMC1051248] [PubMed: 9541109]
    The patient was 14 years old and reached high academic level in school as her twin brother.
    46,XX,der(3;4;10;17)t(3;10;4)(p22.2;q11.22;q25)ins(17;3),(q25.3;p24.2p22.2)?t(10;17)(q26.3;q25.3).,46,XX,t(3;10;4)(ins(17;3)?t(10;17)(3qter->3p22.2::4q25->4qter;,10pter->10q11.22::3p24.2->3pter;4pter->4q25::10q11.22->10q26.3::17q25.3->17qter;,17pter->17q25.3::3p24.3->3p22.2::?10q26.3->10qter).
    Aberration: Complex translocation
    MIM#: 180500
    Index Terms: Rieger syndrome
  • Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schrock E, Ried T, Engels H, Schwanitz G, Schubert R.: Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat. Diag. 19:1143-1149, 1999. [PubMed: 10590433]
    46,XY,t(4;11;12;13)(4pter->4q25::11p14->11p14::4q25->4q27::13p13->13pter;11qter->11p14::4q33->4qter;12pter->12q13::4q27->4q32::12q13->12qter;13qter->13p12::4q33->4q32::11p14->11pter).ishder(4)(wcp4+,wcp11+);der(11)(wcp11+,wcp4+);der(12)(wcp12+,wcp4+);der(13)(wcp4+;wcp11+)de novo
    Twin pregnancy in a 36 yo mother, other twin was normal. The pregnancy was terminated.
    Aberration: Complex translocation
    Index Terms: SKY
  • Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E: No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomittant familial chromosome rearrangements. AJHG 50:288-293, 1992. [PMC free article: PMC1682467] [PubMed: 1531165]
    Patient 5.
    46,XY,t(4;15)(q25;q13).
    Aberration: Reciprocal translocation
    Index Terms: Interchromosomal effect
    Negative band
  • Sparkes R S, Francke U, Muller H, Toomey K E: "Partial 4q duplication due to inherited der(20)t(4;20)(q25;q13)mat." Ann. Genet. 20:31-35, 1977. [PubMed: 302670]
    46,XY,t(4;20)(q25;q13).&"46,XX,der(4)der(20)t(4;20)(q25;q13)pat."
    Case MS(140167) in this report.
    46,XY,-20,+der(20)t(4;20)(q25;q13)mat.
    Aberration: Simple translocation
    Negative band
  • Thomas N S, Morris J K, Baptista J, Ng B L, Crolla J A, Jacobs P A.: De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J. Med. Genet. DOI=10.1136/jmg.2009.069716; 47: 112-115, 2009 and 2010. [PubMed: 19638350]
    Of the 27 26 were paternal and only one maternal.
    Case B3:
    46,XX,t(4;9)(q25;q22.3)de novo.ish t(4;9)(242D9sp;64C9sp),del(18)(q12.3q12.3)(25C13-,463D17-).
    Patient was seen at 11 months because of generalised hypotonia. At age 22 she was reported to have severe learning difficulties and epilepsy, and in the intervening perios she was found to be dysmorphic with a high arched apalte, downslanting palpebral fissures, and ptosis. She had no speech and communicated by noises and singing.
    Aberration: RT,ID
    Chromosomal Aneuploidy: 18q-
  • Vaux C, Sheffield L, Keith C G, Voullaire L: Evidence that Rieger syndrome maps to 4q25 or 4q27. J. Med. Genet. 29:256-258, 1992. [PMC free article: PMC1015927] [PubMed: 1583647]
    46,XX,del(4)(pter -> q25::q27 -> qter)de novo.
    Aberration: Interstitial deletion
    MIM#: 180500
    Chromosomal Aneuploidy: 4q-
    Index Terms: Rieger syndrome
    Negative band
  • Velinov M, Gu H, Yeboa K, Warburton D, Tubo T, Dhuper S, Lanter S, Delprino D, Kupchik G, Jenkins E C.: Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation. AJHG 67 (Suppl. 2):141, 2000. [PubMed: 11840491]
    Velinov M, Gu H, Yeboa K, Warburton D, Tubo T, Dhuper S, Lanter S, Delprino D, Kupchik G, Jenkins E C.: Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation. AJMG DOI=10.1002/ajmg.10140;107:330-333, 2002. [PubMed: 11840491]
    46,XX,add(21)(q22.3).,46,XX,ish der(21)t(4;21)(q25;q22.3)(wcp4+;wcp21+).
    The infant had several mild dysmorphic features. The patient underwent stage 1 Norwood procedure. There was significant growth delay at 4.5 months of age.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+;21q-
    Index Terms: Hypoplastic left heart
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106642
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