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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-.

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

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04q310

4q31
  • Same entry as in 04p140 (Smigiel et al, 2007).

  • Same entry as in 11q200 (Lewanda et al, 1995).

  • Angulo M A, Castro-Magana M, Sherman J, Collipp P J, Milson J, Trunca C, Derenoncourt A N: Endocrine abnormalities in a patient with partial trisomy 4q. J. Med. Genet. 21:303-307, 1984. [PMC free article: PMC1049303] [PubMed: 6387124]
    46,XY,-12,+der(12),t(4;12)(q31;q24).
    Aberration: Simple translocation
    Negative band
  • Anneren G, Lubeck P O: Trisomy 4q31 to qter due to a maternal 4/8 translocation. Hereditas 100:45-49, 1984. [PubMed: 6725006]
    46,XX,rcp(4;8)(q31;p23).&"46,XY,der(4)der(8)t(4;8)(q31;p23)mat."&"46,XY,-8,+der(8)t(4;8)(8qter -> 8p23::4q31 -> 4qter)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Back E, Hertel C, Vogel W, Betteken F, Theisen M: Deletion of the long arm of chromosome 4 46,XX,del(4)(q31) in a patient with congenital anomalies. Ann. Genet. 20:294-296, 1977. [PubMed: 305761]
    Data on this 5 year old patient are reported. Parental karyotypes were normal.
    Aberration: Terminal deletion
    Negative band
  • 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. 12:
    t(4;11)(q31;q23),t(5;8)(q35;q22)mat.,Fetal karyotype - 46,XX,der(11)t(4;11),t(5;8).
    Family ascertained because of a previous infant with MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q+;11q-
    Index Terms: Risk estimates
    Negative band
  • Berger A, Dar H, Reiter A, Tal Y: Chromosome 4q deletion syndrome: a case report. Israel J. Med. Sci. 19:850-852, 1983. [PubMed: 6643027]
    46,XX,del(4)(pter -> q31:).&"The patient died after 23 days; and parental karyotypes were normal."
    Aberration: Terminal deletion
    Negative band
  • Same entry as in 02p250,02q300,03q210 (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;5)(q31;q13); t(4;5)(q31;q14); t(4;8)(q31;p22); t(4;9)(q31;p21); t(4;9)(q31;q13); t(4;10)(q31;q22); t(4;10)(q31;q26); t(4;15)(q31;q25); t(4;16)(q31;p13); t(4;18)(q31;p11); t(4;21)(q31;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Carpenter N J, 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. 431.
    46,XX,t(4;7)(q31;p13)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Cook P J L, Lindenbaum R H, Salonen R, de la Chapelle A, Dakar M G, Buckton K E, Noades J E, Tippett P: The MNSs blood groups of families with chromosome 4 rearrangements. Ann. Hum. Genet. 45:39-47, 1981. [PubMed: 7316476]
    46,XX and XY,der(4)der(10)t(4;10)(q31;q24)mat and pat.&"46,XX,der(4)t(4;10)(4pter -> 4q31::10q24 -> 10qter)mat."
    Aberration: Simple translocation
    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. 1097 in this report.
    46,XY,t(4;10)(q31;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Davis J M, Clarren S K, Salk D J: The del(4)(q31) syndrome-a recognizable disorder with atypical Robin malformation sequence. AJMG 9:113-117, 1981. [PubMed: 7258224]
    46,XX,del(4)(pter -> q31:).&Both parents had normal chromosomes. The syndrome is typified by a Robin malformation sequence without apparent catch-up growth of the mandible, anomalous auricles, a short nasal septum with a depressed nasal bridge, absent 5th finger creases, clinodactyly, and displacement of the toes. Mental retardation has been found in all seven patients.
    Aberration: Terminal deletion
    MIM#: 172880
    Index Terms: Clinodactyly,Fingers ... fifth single crease
    Negative band
  • de Michelena M I, Campos P J: Terminal deletion 4q in a severely retarded boy. AJMG 33:228-230, 1989. [PubMed: 2764033]
    Patient G.P.
    46,XY,del(4)(pter -> q31:).
    Common features appear to be characteristic face, with hypertelorism, flat profile, short nose, severe micrognathia, and abnormal ears; cleft palate, at times with Robin sequence; variable hand anomalies (contractures, syndactyly, hexadactyly); abnormal palmar creases; cardiac defects; postnatal growth retardation; and developmental delay in surviving patients.
    Parental karyotypes were normal.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    Negative band
  • Devers P L, Asamoah A, Zubrickas K, Van Dyke D L.: Partial trisomy 4q and monosomy 18p resulting from a de novo unbalanced translocation. AJHG 67 (Suppl. 2):125, 2000.
    46,XY,der(18)t(4;18)(q31;p11.2)de novo
    The male infant had MCA including malrotation of the bowel.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+;18p-
    No band
  • Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    46,XX,rcp(4;10)(q31;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Duval E, van den Enden A, Vanhaesebrouck P, Speleman F: Jumping translocation in a newborn boy with Dup(4q) and severe hydrops fetalis. AJMG 52:214-217, 1994. [PubMed: 7802011]
    Patient D.M.
    46,XY,-18,+der(18)t(4;18)(q31;q23)(88cells) and 46,XY,-18,+der(18)t(4;18)(q31;p11.3)de novo (12 cells).
    Patient delivered by caesarian section at 32 weeks. Baby had MCA and died at 4 months of age.
    Aberration: JT
    Chromosomal Aneuploidy: 4q+
    Index Terms: Hydrops fetalis
  • 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. 518.
    46,XX,t(4;18)(q31;q23)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Fonatsch C, Flatz S D, Hurter P: "Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q-;18q+)." Humangenetik 25:227-233, 1974. [PubMed: 4141336]
    46,XY,t(4;18)(q31;q21).&"46,XY,der(4)der(18)t(4;18)(q31;q21)pat."
    Patient S.S. (020272) in this report.
    46,XX,-18,+der(18)t(4;18)(q31;q21)pat.
    Aberration: Simple translocation
    Negative band
  • Same entry as in 01q320 (Fryns et al, 1984).

  • Fryns J P, Azou M, Devliegher H, Eggermont E, van den Berghe H: A malformed newborn with 9p and 4q trisomy. Ann. Genet. 24:48-50, 1981. [PubMed: 6971619]
    46,XX,t(4;9)(q31;q13).
    Aberration: Simple translocation
    Negative band
  • Gencik A, Gencikova A, Palova A: Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation. Acta Paedt. Acad. Scient. Hung. 23:291-298, 1982. [PubMed: 7180435]
    46,XX or XY,t(4;5)(q31;p15).&"46,XX,-5,+der(5),t(4;5)(5qter -> 5p15::4q31 -> 4qter)mat and pat."
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 02q130 (German and Chaganti, 1973).

  • Same entry as in 0Xp210 (Giacalone and Francke, 1992).

  • Issa M, Potter A M, Blank C E: Multiple congenital defects associated with trisomy for long arm of No. 4. J. Med. Genet. 13:326-329, 1976. [PMC free article: PMC1013426] [PubMed: 957383]
    46,XX,t(4;9)(q31;q34).&"46,XX,t(4;9)(4pter -> 4q31::9q34 -> 9qter;9pter -> 9q34::4q31 -> 4qter)."&"46,XY,der(4)der(9)t(4;9)(q31;q34)mat."
    Case 000071 in this report.
    46,XY,-9,+der(9)t(4;9)(q31;q34)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Jenkins E C, Curcuru-Giordano F M, Krishna S G: "A case report of 46,XX,t(4;13)(q31;q14)." BD-OAS XI(No. 5):332, 1975.
    Jenkins E C, Curcuru-Giordano F M, Krishna S G, Cantarella J: "De novo occurrence of 46,XX,t(4;13)(q31;q14) in a mentally retarded girl." Ann. Genet. 18:117-120, 1975. [PubMed: 1081364]
    46,XX,t(4;13)(q31;q14).&"46,XX,t(4;13)(4pter -> 4q31::13q14 -> 13qter;13pter -> 13q14::4q31 -> 4qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]
    Case 18:
    46,XX,add(4)(q31.3)
    Anomalies included TAPVR, RAA, club foot, tracheomalacia and developmental delay.
    Case 9:
    46,XY,dup(4)(q31q34)
    Anomalies included TOF, seizures, cerebral atrophy, and developmental delay.
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
    Index Terms: Congenital heart disease
  • Kadotani T, Watanabe Y, Takeuchi S, Hayashidani M, Ohya S: A case of a female infant with terminal deletion of the long arm of No. 4 chromosome. Proc. Jpn. Acad. (Ser. B) 62:247-251, 1986.
    Patient was 15 days old with multiple congenital anomalies.
    46,XX,del(4)(q31)de novo.
    Aberration: Terminal deletion
    Negative band
  • Same entry as in 03q262 (Kuwano A et al, 1988).

  • Lipson A, Collis J, Green C: Partial deletion of the long arm of chromosome 4: a clinical syndrome. J. Med. Genet. 19:155-157, 1982. [PMC free article: PMC1048851] [PubMed: 7077628]
    Patient was 9 years old with mental retardation, characteristic ears, facial bone hypoplasia, cleft palate, very prone to scarring on repair, and specific hand abnormalities. Parental karyotypes were normal.
    46,XX,del(4)(pter -> q31:).
    Aberration: Terminal deletion
    Index Terms: Cleft lip/palate,Bone hypoplasia,Hand ... anomalies
    Negative band
  • Lurie I W, Ilyina H G, Podleschuk L V, Gorelik L B, Zaletajev D V: Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. AJMG 35:286-288, 1990. [PubMed: 2309771]
    Family M.
    46,XX,t(4;7)(q31;q36).
    The malformed infant died in a few hours and karyotyping was not performed.
    Aberration: Reciprocal translocation
    Index Terms: Holoprosencephaly,Hydronephrosis
    Negative band
  • Same entry as in 01p320 (Marsh et al, 1974).

  • Mitchell J A, Packman S, Loughman W D, Fineman R M, Zackai E, Patil S R, Emanuel B S, Bartley J A, Hanson J W: Deletions of different segments of the long arm of chromosome 4. AJMG 8:73-89, 1981. [PubMed: 7246608]
    46,XX, del(4)(pter -> q31:).
    Aberration: Terminal deletion
    Negative band
  • Oka S, Nakagome Y, Honda T, Arima M: "A case of distal 4q trisomy due to familial (4;5)(q31;p15) translocation." Jpn. J. Hum. Genet. 23:167-172, 1978. [PubMed: 691839]
    46,XY,t(4;5)(q31;p15).&"46,XY,t(4;5)(4pter -> 4q31::5p15 -> 5pter;5qter -> 5p15::4q31 -> 4qter)."&"46,XY,der(5)t(4;5)(q31;p15)pat."&The proband, who died at 76 days of age, had multiple congenital anomalies including atresia of the esophagus, ventricular septal defect, and horseshoe kidney.
    Aberration: Reciprocal translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Atresia ... esophageal,Esophageal atresia,Kidney ... malformations
    Negative band
  • Patil S 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. 466.
    46,XX,t(4;10)(q31;q26).
    Aberration: Reciprocal translocation
    Negative band
  • 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(4;17)(q31;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Rivera H, Rolon A, Sanchez-Corona J, Cantu J M: "De novo t(4;5)(q3100;q22) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment." Clin. Genet. 27:105-109, 1985. [PubMed: 3978836]
    46,XY,del(5),t(4;5)(4pter -> 4q31::5q22 -> 5qter;5pter -> 5q15::4q31 -> 4qter).
    Aberration: Simple translocation
    Negative band
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 4, 85-108
    The fetal karyotype was carrier also.
    46,XX,t(4;18)(q31;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 19, EA.
    46,XX,t(4;9)(q31;q32).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Townes P L, White M R, DiMarzo S V: 4q- syndrome. AJDC 133:383-385, 1979. [PubMed: 433854]
    46,XY,t(4;20)(q31;q13).&"46,XY,t(4;20)(4pter -> 4q31:;20pter -> 20q13::4q31 -> 4qter)."&"46,XY,der(4)t(4;20)(q31;q13)pat or 46,XY,del(4)(pter -> q31:)."&Comparison of the patient and three other cases of 4q- de novo deletions suggests a characteristic phenotype: cleft palate, satyr deformity of the pinnae, snub nose, retrognathia and micrognathia, hypertelorism, oropharyngeal hypotonia or upper airway obstruction, cardiac defect, clinodactyly of the fifth fingers with absence of a flexion crease, simian lines, displaced or clinodactylous toes and mental retardation.
    Index Terms: Congenital heart defects (cardiovascular anomalies),Cleft lip/palate,Clinodactyly,Fingers ... fifth single crease,Hypertelorism,Hypotonia,Micrognathia
    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]
    Patient 19 was ascertained because of prenatal diagnosis for advanced maternal age.
    46,XX,dup(4)(q31q35)
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
  • Same entry as in 01p320 (Van Heerden et al, 1986).

  • van Kempen C: A patient with congenital anomalies and a deletion of the long arm of chromosome 4 46,XY,del(4)(q31). J. Med. Genet. 12:204-207, 1975. [PMC free article: PMC1013266] [PubMed: 49428]
    46,XY,del(4)(q31).&46,XY,del(4)(pter -> q31:).&Comparison with two previous cases precludes any definite conclusions. The following characteristics were found: dysmorphia of the ears (satyr ears), palatoschisis, micrognathia, heart defect, sacral dimple and poor development of flexor creases on the fingers.
    Aberration: Terminal deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... anomalies (dysmorphic),Micrognathia
    Negative band
  • Young R S, Palmer C G, Bender H A, Weaver D D, Hodes M E: A 4.5-year-old girl with deletion 4q syndrome-de novo, 46,XX,del(4)(pter to q31:). AJMG 12:103-107, 1982. [PubMed: 7091193]
    Aberration: Terminal deletion
    Negative band
  • Yu C W, Chen H, Baucum R W, Hand A M: Terminal deletion of the long arm of chromsome 4. Report of a case of 46,XY,del(4)(q31) and review of 4q- syndrome. Ann. Genet. 24:158-161, 1981. [PubMed: 6974525]
    Mother had normal karyotype; father was not studied. Patient died when 16 days old after surgery; had multiple congenital anomalies.
    46,XY,del(4)(pter -> q31:).
    Aberration: Terminal deletion
    Negative band
  • Yunis E, Giraldo A, Zuniga R, Egel H, Ramirez E: Partial trisomy 4q. Ann. Genet. 20:243-248, 1977. [PubMed: 305750]
    Cases 1 (N.M.M.), 230673 and 2(M.M.M.) in this report.
    46,XX and XY,-18,+der(18)t(4;18)(q31;q23)mat.&"46,XX and XY,-18,+der(18)t(4;18)(18pter -> 18q23::4q31 -> 4qter)mat."&This translocation was found in three generations and there were six miscarriages. Case 1 died five days after surgical intervention soon after birth. Case 2 was seen at 9 months of age.
    Family M.M. in this report.
    46,XX,t(4;18)(q31;q23).&"46,XX and XY,der(4)der(18)t(4;18)(q31;q23)mat."
    Aberration: Simple translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105693
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