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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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03p250

3p25
  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case No. 2 in Table 4:
    46,XX,del(3)(p25)
    The patient was referred because of dysmorphic features, MR, and ?Fanconi anemia.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
  • Allderdice P W, Ali M, McAlpine P J: Complementation by two non-homologous recombinant chromosomes 3. AJMG 39:396-398, 1991. [PubMed: 1877616]
    Allderdice P W, Browne N, Murphy D P: Chromosome 3, duplication q21 to qter, deletion p25 to pter, syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). AJHG 27:699-718, 1975. [PMC free article: PMC1762887] [PubMed: 1200027]
    Martin R H: Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv(3)(p25q21). AJHG 48:856-861, 1991. [PMC free article: PMC1683062] [PubMed: 2018037]
    McAlpine P J, Casey G, Paetkau D, Allderdice P W: Double recombination within the cen-q21 segment of an inv(3)(p25q21). AJHG 49 (Suppl.):303, 1991.
    The second possible recombinant, rec(3)dup(p25->pter),del(q21->qter), was not observed. The pericentric inversion has been segregating for at least seven generations in a large kindred. See also 03p250 (Hirschhorn et al, 1973).
    46,XX and XY,inv(3)(p25q21).,46,XY,rec(3)dup q,inv(3)(p25q21).,46,XX,rec(3)dup q,inv(3)(p25q21),rec(3)dup(q21->qter),del(p25pter).,46,XY,inv dup(3)(q21-qter)del(3)(p25-pter), ,inv dup(3)(p25-pter)del(3)(q21-qter).
    The two complementary recombinant chromosome 3 were identified in a normal adult.
    Sperm chromosomes were studied, in a 37 year old, after several children were born with duplication and deficiency of chromosome 3. Sperm analysis was performed. There appears to be good evidence for natural selection.
    Aberration: DU,PI,RE
    Index Terms: Sperm ... analysis,Non-homologous chromosome complementation,Double recombination
    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. 15789 in this report.
    46,XX,t(3;15)(p25;q22).&"46,XX,t(3;15)(3qter -> 3p25::15q22 -> 15qter;15pter -> 15q22::3p25 -> 3pter)."
    Patient I.P. No. 16104 in this report.
    46,XY,t(3;7)(p25;q312).&"46,XY,t(3;7)(3qter -> 3p25::7q312 -> 7qter;7pter -> 7q312::3p25 -> 3pter)."
    Patient I.P. No. 4457 in this report.
    46,XX,t(3;8)(p2507;q11).&"46,XX,t(3;8)(3qter -> 3p2507::8q11 -> 8qter;8pter -> 8q11::3p2507 -> 3pter)."&"47,XY,+der(8)t(3;8)(p2507;q11)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Beneck D, Suhrland M J, Dicker R, Greco M A, Wolman S R: Deletion of the short arm of chromosome 3: a case report with necropsy findings. J. Med. Genet. 21:307-310, 1984. [PMC free article: PMC1049304] [PubMed: 6492097]
    Patient, 210881, died on 301181. Parental karyotypes were normal.
    46,XY,del(3)(qter -> p25:).
    Aberration: Terminal deletion
    Negative band
  • Benini D, Vino L, Vecchini S, Fanos V.: 46,XY,del(3)(pter->p25) syndrome: further delineation of the clinical phenotype. Europ. J. Pediat. 158:955-957, 1999. [PubMed: 10592068]
    46,XY,del(3)(pter->p25)de novo
    At the age of 7 mo, the child had severe psychomotor retardation. Craniofacial abnormalities were noted and generalized seizures occurred at 22 months.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
  • Blanco J, Egozcue J, Vidal F.: Interchromosomal effects for chromosome 21 in carriers of structural reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum. Genet. DOI 10.1007/s004390000295, April 19,2000. [PubMed: 10914679]
    46,XY,t(3;15)(p25;q15)
    The patient was 47 years old and had a history of 3 years of infertility. A highly significant increase (P<0.0001) of disomy 21 (1.90 v 0.37%), which could be considered as a positive interchromosomal effect (ICE), was observed.
    Aberration: Reciprocal translocation
  • 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(3;4)(p25;q25); t(3;17)(p25;q21); inv(3)(p25q11); inv(3)(p25q21).
    Aberration: PI,RT
    Negative band
  • Boue J, Boue A: L''interet en diagnostic prenatal des techniques nouvelles d''identification chromosomique dans des translocations et une aneusomie de recombinaison. La Nouv. Presse Med. 2:3097-3102, 1973. [PubMed: 4595679]
    Boue J, Hirschhorn K, Lucas M, Gautier M, Moszer M, Bach C H: Aneusomies de recombinaison. Consequences d''une inversion pericentrique d7un chromosome 3 paternel. Ann. Ped. 21:567-573, 1974.
    Observation No. 2822 in this report.
    46,XY,inv(3)(p25q21).&46,XY,inv(3)(pter -> p25::q21 -> p25::q21 -> qter).&See also 03p250 (Hirschhorn, Lucas and Wallace, 1973).&46,XX,rec(3), def p, dup q,inv(3)(p25q21)pat.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 3p-,3q+
    Negative band
  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 2
    46,XX,t(3;14)(p13;q13),t(3;11)(p25;q25).&"46,XX,-11,+der(11),t(3;11)(p25;q25),t(3;14)(p13;q13)."
    Multiple malformations in three week old female infant.
    Aberration: Double translocation
    Chromosomal Aneuploidy: 3p+
    Negative band
  • Brand A, Reifen R M, Armon Y, Kerem E, Horenstein E, Gale R: Double mitral valve, complete atrioventricular canal, and tricuspid atresia in chromosomal 3p- syndrome. Ped. Cardiol. 8:55-56, 1987. [PubMed: 3601739]
    Reifen R M, Gale R, Kerem E, Armon Y, Brand A, Dagan J, Kohn G: Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome. Clin. Genet. 30:127-130, 1986. [PubMed: 3757303]
    46,XY,del(3)(qter -> p25:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Brand A, Reifen R M, Armon Y, Kerem E, Horenstein E, Gale R: Double mitral valve, complete atrioventricular canal, and tricuspid atresia in chromosomal 3p- syndrome. Ped. Cardiol. 8:55-56, 1987. [PubMed: 3601739]
    46,XY,del(3)(p25).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Index Terms: Tricuspid atresia,Mitral valve
    Negative band
  • Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]
    Case No. 5:
    46,XX,der(3)t(3;8)(p25;q24.1),enh(8)(q24.1->qter),,wcp8+;D3S1442-
    The patient was studied because of developmental delay and dysmorphic features.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p-;8q+
  • Chai N N, Phillips A, Fernandez A, Yen P H.: A putative human male infertility gene DAZLA: genomic structure and methylation status. Mol. Hum. Reprod. 3:705-508, 1997. [PubMed: 9294855]
    Seboun E, Barbaux S, Bourgeron T, Nishi S, Algonik A, Egashira M, Nikkawa N, Bishop C, Fellous M, McElreavey K, Kasahara M.: Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene. Genomics 41:227-235, 1997. [PubMed: 9143498]
    Index Terms: DAZLA
  • Curry C J R, Jensen K, Holland J, Miller L, Hall B D: The Potter sequence: a clinical analysis of 80 cases. AJMG 19:679-702, 1984. [PubMed: 6393764]
    46,XX,t(3;11)(p25;q13.2).
    Case No. 42.
    46,XX,-3,+der(3),t(3;11)(3qter -> 3p25::11q13.2 -> 11qter)mat.
    Aberration: Simple translocation
    Index Terms: Potter syndrome
    Negative band
  • Drumheller T, McGillivray B C, Behtner D, MacLeod P, McFadden D E, Roberson J, Venditti C, Chorney K, Chorney M, Smith D I.: Precise localisation of 3p25 breakpoints in four patients with the 3p- syndrome. J. Med. Genet. 33:842-847, 1996. [PMC free article: PMC1050764] [PubMed: 8933338]
    Ramer J C, Ladda R L, Frankel C: Two infants with del(3)(p25pter) and a review of previously reported cases. AJMG 33:108-112, 1989. [PubMed: 2665488]
    Also see Malmgren et al (2007) cited under 03p250.
    Patient 1 was a girl; and Patient 2 was a boy.
    46,XX and XY,del(3)(qter -> p25:).
    Also see report by Mowrey at al 1993.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Drumheller T, McGillivray B C, Behtner D, MacLeod P, McFadden D E, Roberson J, Venditti C, Chorney K, Chorney M, Smith D I.: Precise localisation of 3p25 breakpoints in four patients with the 3p- syndrome. J. Med. Genet. 33:842-847, 1996. [PMC free article: PMC1050764] [PubMed: 8933338]
    Tazelaar J, Roberson J, Van Dyke D L, Babu V R, Weiss L: Mother and son with deletion of 3p25-pter. AJMG 39:130-132, 1991. [PubMed: 2063913]
    Patient 1, DR, and 2 (mother).
    46,XY,del(3)(p25 -> pter)mat.
    Both patients have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus.
    No congenital heart problems were found in either of them.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Index Terms: Telecanthus
    Negative band
  • Drumheller T, McGillivray B C, Behtner D, MacLeod P, McFadden D E, Roberson J, Venditti C, Chorney K, Chorney M, Smith D I.: Precise localisation of 3p25 breakpoints in four patients with the 3p- syndrome. J. Med. Genet. 33:842-847, 1996. [PMC free article: PMC1050764] [PubMed: 8933338]
    Patients 1, TL, and 2, MN:
    46,XX,del(3)(p25->pter).,46,XY,der(3)t(3;?)(p25.3;?).
    Lymphoblastoid cell lines and somatic cell hybrids were generated and extensively studied.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H.: Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. AJMG Part A: 152A: 2791-2795, 2010. [PubMed: 20949503]
    45,XY,der(3)t(3;22)(p25;q12)dn,-22.
    Proband was 25 days old with MCA including those of 3p deletion and DiGeorge syndrome.
    The breakpoint was distal to D22S942. The deletion spans 8.727 Mb region on chromosome 3 within (p25.3;pter) and 3.811 Mb region on chromosome 22 within (q11.1q11.21).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p-
  • 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]
    Munn+¬ S, Fung J, Cassel M J, M+írquez C, Weier H U G.: Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Hum. Genet. 102:663-674, 1998. [PubMed: 9703428]
    Estop et al (2000) found an excess of chromosome 21 disomy in carriers than controls.
    46,XY,t(3;19)
    The patient was ascertained after the birth of his first daughter, both daughters are carriers of the translocation.
    Case B:
    46,XY,t(3;4)(p25;p16)
    The patient was 37 years old. His wife had experienced six previous spontaneous abortions (one of them after an IVF), and no live births. The couple underwent two cycles of IVF and PGD.
    Aberration: Reciprocal translocation
    Index Terms: Preimplantation analysis of translocations
  • Faed M J W, Lamont M A, Baxby K: Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J. Med. Genet. 19:49-56, 1982. [PMC free article: PMC1048819] [PubMed: 7069747]
    Patient 625/78.
    46,XY,inv(3)(p25q21).
    Aberration: Inversion pericentric
    Negative band
  • Faed M J W, Robertson J, Beck J S, Cater J I, Bose B, Madlom M M: "Features of Di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11)." J. Med. Genet. 24:225-227, 1987. [PMC free article: PMC1050000] [PubMed: 3585938]
    Parents and sister had normal karyotypes.
    45,XX,-3,-22,+der(3),t(3;22)(p25;q11).&"45,XX,-3,-22,+der(3),t(3;22)(3qter -> 3p25::22q11 -> 22qter)."
    Aberration: Simple translocation
    MIM#: 188400
    Chromosomal Aneuploidy: 3p-,22-
    Index Terms: Di George syndrome
    Negative band
  • Fineman R M, Hecht F, Albow R C, Howard R O, Breg W R: Chromosome 3 duplication q/deletion p syndrome. Pediatrics 61:611-618, 1978. [PubMed: 662487]
    Family 1 in this report.
    46,XX,inv(3)(p25q13).&46,XY,rec(3),dup q,inv(3)(p25q13)mat.
    Family 2 in this report.
    46,XY,inv(3)(p25q25).&46,XX,rec(3),dup q,inv(3)(p25q25)pat.
    Family 4 in this report.
    46,XX,del(3)(p25) in this report.&It is concluded that the syndrome in which the long arm (q) of chromosome 3 is duplicated and the short arm (p) is deleted is a distinct clinical entity. The psychomotor retardation found in this syndrome appears to be caused mostly by monosomy of the region 3pter -> 3p25, while severity of the physical malformations (and hence the lethality) is apparently proportional to the amount of extra chromosome 3q material present. Features common to the chromosome 3 duplication q/deletion p syndrome are mental and growth retardation, microcephaly, seizures, prominent and/or asymmetric frontal bossing, ocular hypertelorism, ptosis, upward-slanting palpebral fissures, and low-set and/or malformed ears.
    Aberration: Inversion pericentric
    Index Terms: Ears ... low-set malformed,Hypertelorism,Microcephaly,Ocular (optic) anomalies,Palpebral fissures ... upward slanting,Ptosis,Seizures
    Negative band
  • Gabarron J, Glover G, Jimenez A, Salas P, Perez-Bryan J, Parra M J: Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype. Clin. Genet. 33:211-219, 1988. [PubMed: 3359679]
    Family D and E.
    46,XX or XY,t(3;7)(p25;p13)mat or pat.
    Aberration: Simple translocation
    Negative band
  • Gonzales J, Lesourd S, Braconnier A: Partial deletion of the short arm of chromosome 3. Report of a case. Ann. Genet. 23:119-122, 1980. [PubMed: 6967285]
    Patient Roberte D, 241261, in this report. Parents have a normal karyotype. Features of the two patients include microcephaly, failure to thrive, ptosis, synophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips.
    46,XX,del(3)(pter -> p25).
    Aberration: Terminal deletion
    Index Terms: Chin ... over developed,Microcephaly,Ptosis,Synophrys
    Negative band
  • Hersh J H, Greenstein R M, Perkins J C, Reardon P C: "A case of 47,XY,+der(15),t(3;15)(p25;q11)pat presenting as partial 3p trisomy syndrome with multiple joint contractures." J. Med. Genet. 17:396-398, 1980.
    46,XY,t(3;15)(3qter -> 3p25::15q11 -> 15qter;15pter -> 15q11::3p25 -> 3pter).&"47,XY,+der(15)t(3;15)(p25;q11)pat."&A 4 mo. patient was found to have multiple joint contractures and camptodactyly of the fingers and toes at birth.
    Aberration: Reciprocal translocation
    Index Terms: Camptodactyly,Joints ... anomalies
    Negative band
  • Higginbottom M C, Mascarello J T, Hassin H, McCord W K: A second patient with partial deletion of the short arm of chromosome 3: Karyotype 46,XY,del(3)(p25). J. Med. Genet. 19:71-73, 1982. [PMC free article: PMC1048824] [PubMed: 7069751]
    Parents'' karyotypes were normal. Patient was 5 months old. Altered features include prenatal onset of growth deficiency, postaxial polydactyly, ptosis, ear anomalies, a triangular facial appearance, micrognathia, epicanthal folds, long philtrum, and unilateral hernia.
    Aberration: Terminal deletion
    Index Terms: Ears ... anomalies (dysmorphic),Epicanthal folds,Face ... long triangular,Hernia ... unilateral,Micrognathia,Philtrum ... long,Polydactyly,Ptosis
    Negative band
  • Hirschhorn K, Lucas M, Wallace I: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36:375-379, 1973. [PubMed: 4270654]
    Family B(Gc 829) in this report.
    46,XY,inv(3)(p25q21).&46,XY,inv(3)(pter -> p25::q21 -> p25::q21 -> qter).&"Two offspring (one fetus) with duplication-deficiency resulting from this inversion are also reported. The preceding three reports of inversion may concern members of a single large kindred (Allderdice, 1975; Boue and Boue, 1973; Hirschhorn et al, 1973)."
    Aberration: Inversion pericentric
    Negative band
  • Honda H, Miharu N, Ohashi Y, Honda N, Hara T, Ohama K.: Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple color fluorescence in situ hybridization. Hum. Genet. 105:428-436, 1999. [PubMed: 10598808]
    Subject 1:
    46,XY,t(3;9)(p25;q32)
    The subject is 32 years old. He has a 7-year-old girl with a normal karyotype and 2-year-old boy with the same translocation. The frequency of normal or chromosomally balanced sperm products was 47.25%.
    Aberration: Reciprocal translocation
  • Kalousek D 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. 317.
    46,XX,t(3;5)(p25;p15)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kawashima H, Maruyama S: A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21). Jpn. J. Hum. Genet. 24:9-12, 1978. [PubMed: 459148]
    46,XX,inv(3)(p25q21).&46,XX,inv(3)(pter -> p25::q21 -> p25::q21 -> qter).&46,XX,rec(3),dup(q21 -> qter)del(p25 -> pter).&The patient, died after 61 days, showed multiple congenital anomalies, with heart failure.
    Aberration: Inversion pericentric
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    Negative band
  • Kim M A, Majewski F, Haberlandt W F: "A balanced translocation (3p+;16q-) in a mother as the most probable cause of multiple stillborn or premature born infants." Arch. Genetik 47:129-135, 1974. [PubMed: 4469155]
    46,XX,rcp(3;16)(p25;q13).&"46,XX,rcp(3;16)(3qter -> 3p25::16q13 -> 16qter;16pter -> 16q13::3p25 -> 3pter)."
    Aberration: Reciprocal translocation
    Index Terms: Still born (premature)
    Negative band
  • 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]
    47,XY,+21,inv(3)(p25q11).
    Aberration: Inversion pericentric
    Negative band
  • Kotzot D, Kruger C, Braun-Quentin C.: De novo direct duplication 3 (p25->pter): a previously undescribed chromosomal aberration. Clin. Genet. 50:96-98, 1996. [PubMed: 8937769]
    46,XY,dir dup(3)(p25->pter)de novo
    At the age of 3 years, he was being evaluated for moderate growth, mental retardation, muscular hypotonia, a short neck, and other minor facial dysmorphic features.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 3p+
    No band
  • Kucerova M, Strakova M, Polivkova Z: The Prader-Willi syndrome with a 15/3 translocation. J. Med. Genet. 16:234-235, 1979. [PMC free article: PMC1012701] [PubMed: 469905]
    A de novo translocation in a 5 year old boy with Prader-Willi syndrome (severe mental retardation, dyslexia, cryptorchidism, and muscular hypotonia) was found.,45,XY,-15,t(3;15)(3qter->3p25::15q15->15qter).
    Aberration: Simple translocation
    Index Terms: Cryptorchidism, (see also Testes, undescended),Hypotonia,Prader-Willi ... Critical Region (PWCR),Dyslexia
    Negative band
  • Lukusa T, Devriendt K, Fryns J P.: A 3p deletion syndrome in a child with both del(3)(p25->pter) and dup(17)(q23->qter). Ann. Genet. 42:91-94, 1999. [PubMed: 10434122]
    Mother=46,XX,t(3;17)(p25;q23).,Proband=46,XX,der(3)t(3;17)(3qter->3p25::17q23->17qter)mat.
    The patient was 8 years old with broad full nose, synophrys, hisutism, pectus excavatum, widely spaced nipples, severe MR and has no speech.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p-;17q+
  • Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E.: Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. AJMG Part A: DOI=10.1002/ajmg.a.31902, 2007. [PubMed: 17696125]
    Patient 1=46,XX,del(3)(p25.2).,Patient 2=46,XX,del(3)(p25.3p26.3).,Patient 3=46,XX,del(3)(p25).
    Aberration: TD,ID
    Chromosomal Aneuploidy: 3p-
  • Martin N J, Steinberg B G: The dup(3)(p25 to pter) syndrome: a case with holoprosencephaly. AJMG 14:767-772, 1983. [PubMed: 6846406]
    46,XX,t(3;4)(p25;q35).&"46,XY,-4,+der(4)t(3;4)(4pter -> 4q35::3p25 -> 3pter)mat."
    Aberration: Simple translocation
    Index Terms: Holoprosencephaly
    Negative band
  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    46,XY,t(3;4)(p25;q213).
    Male with normozoospermia was studied.
    Aberration: Reciprocal translocation
    Index Terms: Normozoospermia
    Negative band
  • Matsuda T, Nonomura M, Yamamoto S, Hayashi K, Yoshida O: Sperm morphology in subfertile carriers of autosomal translocations. Int. J. Fertil. 36:178-182, 1991. [PubMed: 1678374]
    Patient No. 5.
    46,XY,t(3;4)(p25;q213).
    Patient was 35 years old and also had varicocele.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... morphology,Varicocele
    Negative band
  • McClure R J, Telford N, Newell S J.: A mild phenotype associated with der(9)t(3;9)(p25;p23). J. Med. Genet. 33:625-627, 1996. [PMC free article: PMC1050679] [PubMed: 8818957]
    46,XX,-9,+der(9)t(3;9)(p25;p23)mat.
    A infant with hypoglycemia, hypotonia, obesity of the trunk and thighs, and mild dysmorphic fetures. Growth parameters above the 90th centile.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+; 9p-
    Negative band
  • Meinecke P: Terminal deletion of chromosome 3p in adults: a fourth observation. AJMG 36:519-520, 1990. [PubMed: 2389810]
    46,XY,del(3)(qter -> p25:)de novo.
    The 22-year-old was severely mentally retarded.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Miller K, Flatz S D: Segregation of two independent chromosomal translocations in one family. Hum. Genet. 68:93-95, 1984. [PubMed: 6500562]
    Individual III-2.
    46,XX,t(3;19)(p250;q134)de novo,t(16;22)(p133;q112)mat.
    Individual IV-1.
    47,XY,t(3;19)(p250;q134)mat,+der(22),t(16;22)(p133;q112)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Moncla A, Philip N, Mattei J F.: Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J. Med. Genet. 32:245-246, 1995. [PMC free article: PMC1050331] [PubMed: 7783183]
    46,XY,del(3)(p25->pter).
    The patient was 5 months old.
    It is just possible that these deletions may have been missed on standard chromosome analysis if they were as small as the one we observed.
    Aberration: Terminal deletion
    MIM#: 110100
    Chromosomal Aneuploidy: 3p-
    Index Terms: Blepharophimosis ... MR syndrome
    Negative band
  • Mowrey P N, Chorney M J, Venditti C P, Latif F, Modi W S, Lerman M I, Zbar B, Robins D B, Rogan P K, Ladda R L: Clinical and molecular analyses of deletion 3p25-pter syndrome. AJMG 46:623-629, 1993. [PubMed: 8103286]
    Patient TR.
    46,XY,del(3)(qter -> p25:)de novo.
    The patient died after 4 months; deletion spans at least 19 cM.
    Also see earlier report by Ramer et al 1989.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Mulcahy M T, Pemberton P J, Sprague P: Trisomy 3q: Two clinically similar but cytogenetically different cases. Ann. Genet. 4:217-220, 1979. [PubMed: 317784]
    Case 1 in this report.
    See report by Sutherland et al, (1981) for a larger study of this family.&"inv(3)(p25;q24)."
    Aberration: Inversion pericentric
    Negative band
  • Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]
    46,XY,der(3)t(3;3)(p25;q26.2)del(3)(p25)dup(3)(q26.2->qter).
    Case 9, born in 1987, had moderate MR, minimal dysmorphic features (slight synophrys, anteverted nostrils), normal stature, chronic obstipation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3q+
    Index Terms: CGH
  • Nielsen K B, Tommerup N, Jespersen B, Nygaard P, Kleif L: "Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons." J. Med. Genet. 23:446-451, 1986. [PMC free article: PMC1049782] [PubMed: 3783621]
    A four generation family was studied.
    46,XX or XY,t(3;20)(3qter->3p25::20q13.1->20qter;,20pter->20q13.1::3p25->3pter).,46,XX or XY,-3,+der(3)t(3;20)(3qter->3p25::,20q13.1->20qter)mat or pat.,This translocation was not detected by standard Q banding technique in 1974. High resolution GTG banding in 1981 and strong family history enabled the authors to find the rearrangement.
    Aberration: Reciprocal translocation
    Negative band
  • Nienhaus H, Mau U, Zang K D: Infant with del(3)(p25 to pter): karyotype-phenotype correlation and review of previously reported cases. AJMG 44:573-575, 1992. [PubMed: 1481811]
    46,XY,del(3)(p25 -> pter)de novo.
    Patient died after 4 weeks due to his heart defect. He also had tetramelic hexadactyly, and craniofacial anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 3p-
    Negative band
  • Parloir C, Fryns J P, van den Berghe H: Partial trisomy of the short arm of chromosome 3 (3p25 to 3pter). A distinct clinical entity. Hum. Genet. 47:239-244, 1979. [PubMed: 457113]
    46,XX,t(3;18)(p25;q23).&"46,XX,t(3;18)(3qter -> 3p25::18q23 -> 18qter;18pter -> 18q23::3p25 -> 3pter)."&"46,XY,-18,+der(18)t(3;18)(p25;q23)mat."&Two brothers CC and CN were karyotyped in a survey of the severely mentally handicapped. They had craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Features such as prominent high forehead with frontal bossing and full cheeks were present during childhood but progressively disappeared.
    Aberration: Reciprocal translocation
    Index Terms: Facial dysmorphism,Forehead ... prominent,Hypertelorism,Lips ... short upper,Mouth ... downturned corners,Mouth ... large,Philtrum ... prominent
    Negative band
  • Perrin Y, Addor M-C, Sekarski N, Gaide A-C, Schorderet D F.: Distal trisomy 14 (q24->qter) and aorto-pulmonary window: a case report and review of the literature. Ann. Genet. DOI=10.1016/S0003-3995(02)01135-8; 45:173-175, 2002. [PubMed: 12668162]
    46,XX,der(3)t(3;14)(p25;q24)pat.,Father=46,XY,t(3;14)(p25;q24).
    The newborn had MCA. At 15 months of age, she did not sit, and had dolichocephaly, small low and dysplastic ears, and abnormal creases on the forehead and philtrum and abnormal inner parts of eyelids.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p-;14q+
    Index Terms: Aorto-pulmonary window
  • Pescia G, Jotterand M, Gaide A C: Fausses-Couches precoces iteratives et caryotype etude cytogenetique de 80 couples consecutifs. J. Gyn. Obst. Biol. Repr. 8:35-38, 1979. [PubMed: 469198]
    46,XX,t(3;6)(p25;q15).
    Aberration: Simple translocation
    Negative band
  • Pope I S, Thuline H C, Aronson M M, Bozarth B, Greene A E, Coriell L L: Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Repository Identification Nos. GM-1253, GM-1251 Cytogenet. Cell Genet. 24:127-128, 1979. [PubMed: 477407]
    The proband (GM-1253) has 46,XY,rec(3),dup q,inv(3)(p25q25)mat.&The father (GM-1250) of the proband has a 47,XYY complement.&The mother (GM-1252) who is phenotypically normal has 46,XX,inv(3)(p25q25),inv(9)(p11q1).&GM-1251 is from a skin biopsy of the 4 year old brother of GM-1253, he is phenotypically normal, his cells are 46,XY,inv(9)(p11q1)mat.&The proband is a 4 month old black male with multiple congenital anomalies, including esotropia, cryptorchidism, duodenal atresia, a patent urachus, malrotation of the midgut with an annular pancreas, a heart murmur, and bilateral extra digits and hirsutism.
    Aberration: Inversion pericentric
    Index Terms: Atresia ... duodenal,Cryptorchidism, (see also Testes, undescended),Esotropia ... alternating,Hirsutism,Urachus patent
    Negative band
  • Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x; 111:31-39, 2002. [PubMed: 12136233]
    Case 3, 2 years old:
    46,XX,der(3)t(3;16)(p25;p13.2)de novo
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p-;16p+
    Index Terms: Multiplex FISH (M-TEL) assay
  • Preus M, Vekemans M J J, Kaplan P: Diagnosis of chromosome 3 duplication q23 to qter, deletion p25 to pter in a patient with the C (Trigonocephaly) syndrome. AJMG 23:935-943, 1986. [PubMed: 3515940]
    Patient J. M. and family.
    Mother: 46,XX,inv(3)(p25q23).&Patient: 46,rec(3),dup q,inv(3)(p25q23)mat.
    Aberration: PI,RE
    MIM#: 211750
    Index Terms: Trigonocephaly
    Negative band
  • Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]
    46,XY,rcp(3;15)(p25;q15).
    Aberration: Reciprocal translocation
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XY,t(3;10)(p25;q26)
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Shuib S, McMullan D, Rattenberry E, Barber R M, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher E R.: Microarray based analysis of 3p25-p26 deletions (3p- syndrome). AJMG Part A: 149A: 2099-2105, 2009. [PubMed: 19760623]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
  • Sider D, Wilson W G, Sudduth K, Atkin J F, Kelly T E: Cytogenetic studies in couples with recurrent pregnancy loss. Southern Med. J. 81:1521-1524, 1988. [PubMed: 3201300]
    46,XX,t(3;10)(p25;q24).
    Aberration: Simple translocation
    Negative band
  • Smith A, den Dulk G, Elliott G: A severely retarded 18-year-old boy with tertiary partial trisomy 14. J. Med. Genet. 17:230-232, 1980. [PMC free article: PMC1048554] [PubMed: 7401136]
    Smith A, Ong L S, Beran R G: Pubertal development in partial trisomy 14q. J. Med. Genet. 25:782-783, 1988. [PMC free article: PMC1051588] [PubMed: 3236359]
    46,XX,t(3;14)(p25;q21).&"46,XX,t(3;14)(3qter -> 3p25::14q21 -> 14qter;14pter -> 14q21::3p25 -> 3pter)."
    Patient was 18 years old with severe mental and physical retardation.
    47,XY,+der(14)t(3;14)(p25;q21)mat.
    In 1987, at the age of 27 years, the patient showed evidence of pubertal development.
    Aberration: Reciprocal translocation
    Index Terms: Puberty ... development
    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 6, RM.
    46,XX,t(3;13)(p25;q14).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Steinbach P, Adkins W N, Caspar H, Dumars K W, Gebauer J, Gilbert E F, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia E G, Langenbeck U, Meisner L F, Najafzadeh T M, Opitz J M, Palmer C G, Peters H H, Scholz W, Tavares A S, Wiedeking C: The Dup(3q) syndrome: Report of eight cases and review of the literature. AJMG 10:159-177, 1981. [PubMed: 7315873]
    Patient 5.
    46,XY,der(2)t(2;3)(q37;p25)pat.
    Patients 7 and 8 (ML and DL).
    46,XX and XY,del(3p)dup(3q)rec(3)(p25q25).&The clinical syndrome is characterized by statomotoric retardation, shortened life span, and multiple congenital anomalies including abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, downturned corners of the mouth, highly arched or cleft palate, micrognathia, malformed auricles, short, webbed neck, clinodactly, simian crease, talipes, and congenital heart disease.
    Index Terms: Cleft lip/palate,Clinodactyly,Congenital heart defects (cardiovascular anomalies),Hypertelorism,Hypertrichosis,Micrognathia,Mouth ... downturned corners,Neck ... short webbed,Ocular (optic) anomalies,Palate ... high arched,Philtrum ... long,Statomotor retardation
    Negative band
  • Stine S B, Clark C E, Telfer M A, Casey P A, Cowell H R: Ulrich-Turner syndrome (45,X/46,X,i\Xq\) in a child with a familial inversion of chromosome 3. AJDC 12:57-62, 1982. [PubMed: 7091197]
    mos45,X,inv(3)(p25q21)pat/46,X,i(Xq)inv(3)(p25q21)pat.
    Aberration: Inversion pericentric
    Index Terms: Ullrich-Turner syndrome
    Negative band
  • Sutherland G R, Mulley J C, Goldblatt E: A large kindred with an inv(3)(p25q23): Clinical, cytogenetic and genetic marker studies. Ann. Genet. 24:202-205, 1981. [PubMed: 6977298]
    46,XX and XY,inv(3)(p25q23) was found segregating in six generations. A branch of this family also reported by Mulcahy et al, (1979).
    46,XX and XY,rec(3)dup(q23 -> qter)del(p25 -> pter)mat and pat.
    Aberration: Inversion pericentric
    Negative band
  • Tenchini M L, Montali E, Simoni G, Nuzzo F: A 3/4 Reciprocal Translocation in Two Unrelated Families. Hum. Genet. 37:235-238, 1977. [PubMed: 560351]
    A reciprocal translocation involving chromosomes 3 and 4 was found in two unrelated families. In both cases the entire long arm of 4 was translocated onto the short arm of 3.
    Case I in this report.
    46,XX,t(3;4) (p25;q12).&There are 5 spontaneous abortions in this family and the proband''s father had the same translocation.
    Case II in this report.
    46,XX,t(3;4) (p24 or 5;q12 or 3).&This patient had a son who died at 8 months of age with the karotype: 47,XY,+der(4)mat,tris 4pter->4q13.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Tipton R E, Berns J S, Johnson W E, Wilroy R S, Jr, Summitt R L: Duplication 6q syndrome. AJMG 3:325-330, 1979. [PubMed: 474632]
    46,XX and XY,rcp(3;6)(p25;q21)mat and pat.
    Patient AS 280559, was 14 years old. Distinctive features in the 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, ''carp'' mouth, micrognathia and mental retardation.
    Aberration: Reciprocal translocation
    Index Terms: Face ... flat,Forehead ... prominent,Microcephaly,Micrognathia,Mouth ... carp-fish-shaped,Turricephaly ... acrocephaly
    Negative band
  • Tolmie J L, Batstone P, Ruthven I, Gilmore D H: Partial deletion of the short arm of chromosome 3. Clin. Genet. 29:538-540, 1986. [PubMed: 3742860]
    An infant with multiple congenital anomalies, along with a review of similar cases, is presented here.
    46,XY,del(3)(qter -> p25:)de novo.
    Aberration: Terminal deletion
    Negative band
  • Turleau C, Chavin-Colin F, de Grouchy J: Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obst. Gynecol. Reprod. Biol. 9:65-74, 1979. [PubMed: 264085]
    Laboratory register No. 7428.
    t(3;19)(p25;p12).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Verjaal M, de Nef J J: A patient with a partial deletion of the short arm of chromosome 3. AJDC 132:43-45, 1978. [PubMed: 623063]
    Case 050775 in this report.
    46,XY,del(3)(p25).&46,XY,del(3)(qter -> p25:).
    Aberration: Terminal deletion
    Negative band
  • Wahlstrom J, Uller A, Johannesson T, Holmqvist D, Darnfors C, Vujic M, Tonnby B, Hagberg B, Martinsson T.: Congenital variant Rett syndrome in a girl with terminal deletion of chromsome 3p. J. Med. Genet. 36:343-345, 1999. [PMC free article: PMC1734344] [PubMed: 10227408]
    Aberration: Terminal deletion
    MIM#: 312750
    Chromosomal Aneuploidy: 3p-
    Index Terms: Rett syndrome
  • 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. 351.
    46,XX,t(3;10)(p25;q24)pat.
    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(3;13)(p25;q12).
    Aberration: Reciprocal translocation
    Negative band
  • Wilmot P L, Shapiro L R, Casamassima A C: Disomic balanced reciprocal translocation. Clin. Genet. 38:126-127, 1990. [PubMed: 2208763]
    46,XY,t(3;16)(p25;q13)mat,t(3;16)(p25;q13)pat.
    An interesting finding in a patient with very minimal problems.
    Aberration: Reciprocal translocation
    Index Terms: Disomic
    Negative band
  • Witt D R, Biedermann B, Hall J G: Partial deletion of the short arm of chromosome 3 (3p25 to 3pter). Further delineation of the clinical phenotype. Clin. Genet. 27:402-407, 1985. [PubMed: 3995790]
    46,XX,del(3)(qter -> p25:).&Parental karyotypes were normal.
    Aberration: Terminal deletion
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
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