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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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05p100

5p10
  • Atkins L, Milunsky A, Shahood J M: Prenatal diagnosis: Detailed chromosome analysis in 500 cases. Clin. Genet. 6:317-322, 1974. [PubMed: 4216438]
    t(5p-;10q+).
    Aberration: Simple translocation
    No band
  • Bochkov N P, Kuleshov N P, Chebotarev A N, Alekhin V I, Midian S A: Population cytogenetic investigation of newborns in Moscow. Humangenetik 22:139-152, 1974. [PubMed: 4858449]
    46,XY,inv(5)(pq).&46,XY,der(5)inv(5)(pq)pat.
    Aberration: Inversion pericentric
    No band
  • Bogomazov E A, Averyanov Y N, Zotov V V, Lurie I W, Pawljuk G I: A case of cri du chat syndrome with unusual karyotype in the father. Genetika 9:174-176, 1973.
    46,XX,5p-.&Phenotypically normal father also had a similar 5p- chromosome and possible explanations are offered.
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Borgaonkar D S: Application of new technics of chromosome identification to cytogenetic problems. BD-OAS IX(No. 1):171-182, 1973. [PubMed: 4120145]
    46,XY,del(5)(p1).&46,XY,del(5)(qter -> p1:).&It was shown that the terminal portion was deleted from a chromosome No. 5 in a patient with the cri-du-chat syndrome.
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Breg W R, Aronson M M, Greene A E, Coriell L L: Deletion of the short arm of chromosome 5 from a subject with cri-du-chat syndrome. Repository Identification No. GM-71. Cytogenet. Cell Genet. 17:239-140, 1976. [PubMed: 1001031]
    Subject R.C. (290348), 19-year-old in this report.
    46,XX,-5,+der(5),t(5;?)(p;?)mat.
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Breg W R, Miller D A, Allderdice P W, Miller O J: Identification of translocation chromosomes by quinacrine fluorescence. AJDC 123:561-564, 1972. [PubMed: 4113489]
    46,XX,t(5p-;14q+).
    Patient 4 in this report.
    Three mentally retarded offspring: one partially monosomic and two partially trisomic for the short arm of chromosome No. 5.
    Aberration: Simple translocation
    No band
  • Carrel R E, Sparkes R S, Wright S W: Chromosome survey of moderately to profoundly retarded patients. Am. J. Ment. Defic. 47:616-622, 1973. [PubMed: 4703994]
    46,XX,5p-/46,XX,r(5).
    Aberration: Ring chromosome
    No band
  • Caspersson T, Lindsten J, Zech L: "Identification of the abnormal B group chromosome in the ""cri-du-chat"" syndrome by Q-M fluorescence." Exp. Cell Res. 61:475-476, 1970. [PubMed: 5459851]
    46,XX,del(5)(p1).&46,XX,del(5)(qter -> p1:).&"A portion of the short arm of chromosome No. 5 is deleted in patients with what has been called the ""cat''s cry syndrome"" because of the similarity with the mewing-like cry during infancy."
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Catti A, Schmid W: A pericentric inversion, 5p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. Cytogenetics 10:50-60, 1971. [PubMed: 5097502]
    46,XX,inv(5)(pq),15q+,r(C).,Chromosome identification by autoradiography.
    Aberration: Inversion pericentric
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Church D M, Bengtsson U, Nielsen K V, Wasmuth J J, Niebuhr E.: Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. AJHG 56:1162-1172, 1995. [PMC free article: PMC1801456] [PubMed: 7726173]
    Overhauser J, Bengtsson U, McMahon J, Ulm J, Butler M G, Santiago L, Wasmuth J J: Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. AJHG 45:296-303, 1989. [PMC free article: PMC1683354] [PubMed: 2667351]
    Overhauser J, McMahon J, Oberlender S, Carlin M E, Niebuhr E, Wasmuth J J, Lee-Chen J: Parental origin of chromosome 5 deletions in the Cri-du-chat syndrome. AJMG 37:83-86, 1990. [PubMed: 1978567]
    Three retarded children were found to be hemizygous for loci distal to 5p14.
    25 patients were studied.
    The deleted chromosome 5 was of paternal origin in 20/25 cases.
    Chromosomal Aneuploidy: 5p-
    No band
  • Cohen M M, Lin C C, Davidson R G: Two B-C translocations specifically identified by ''banding'' techniques. J. Med. 3:216-223, 1972. [PubMed: 4508563]
    Patient B. G. in this report.
    46,XY,t(5p+;6q-).
    Aberration: Simple translocation
    No band
  • Cornish K M, Bramble D, Munir F, Pigram J.: Cognitive functioning in children with typical cri du chat (5p-) syndrome. Develop. Med. Child Neurol. 41:263-266, 1999. [PubMed: 10355811]
    In the 1999 study, after studying 26 patients, the authors conclude that the parents and professionals should be more optimistic about capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • David A, Desai N, Udvardy M, High D, Engelberg J, Cowen D: Medical ethics grand rounds - cri du chat and Potter syndromes: a decision to abort. Hosp. Prac. 27:197-206, 1992.
    Aberration: Terminal deletion
    MIM#: 173900
    Chromosomal Aneuploidy: 5p-
    Index Terms: Ethics,Potter syndrome
    No band
  • DeGeorge F V, Neu R L, Gardner L I: "A t(5p-;21q+) in a family with Down''s syndrome." AJHG 26:25A, 1974.
    46,XX,t(5p-;21q+).
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Dutrillaux B: Chromosomal aspects of human male sterility. Nobel Symposium 23:205-208, 1972. [PubMed: 4804750]
    46,XY,t(5;8)(p1;q1).,46,XY,t(5;8)(5qter->5p1::8q1->8qter;8pter->8q1::5p1->5pter).
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male
    No band
  • Gill P, Uhrich S, Disteche C, Cheng E.: Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. AJMG 52:416-418, 1994. [PubMed: 7747753]
    45,XY,-5,-21,+der(5)t(5;21)(p13 or 4;q11.2 or 21).
    Pregnancy was terminated and molecular studies were done on cultured placnetal cells.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5p-,21p-,21q-
    Index Terms: Cryptic translocations
    No band
  • Gosden C, Nicolaides K H, Rodeck C H: Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet i:613-617, 1988. [PubMed: 2894549]
    mos46,XX/46,XX,inv(5p).
    Aberration: Inversion paracentric
    No band
  • Grosso S, Cioni M, Garibaldi G, Pucci L, Galluzzi P, Canapicchi R, Morgese G, Balestri P.: De novo complete trisomy 5p: clinical and neuroradiological findings. AJMG DOI=10.1002/ajmg.10679; 112:56-60, 2002. [PubMed: 12239721]
    The patient was 3 years old.
    46,XX,dup(5p)de novo.ish(EGR1-,D5Z2+,5p+)
    Followup revealed low levels of secretory immunoglogulin A (IgA), likely related to recurrent respiratory infections.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5p+
  • Guttler F, Niebuhr E: On the possible localization of a gene for triosephosphate isomerase on the short arm of human chromosome 5. Humangenetik :301-306, 1973. [PubMed: 4694511]
    Aberration: Terminal deletion
    MIM#: 190450
    No band
  • Hodapp R M, Wijma C A, Masino L L.: Families of children with 5p-(cri du chat) syndrome: familial stress and sibling reactions. Develop. Med. Child Neurol. 39:757-761, 1997. [PubMed: 9393890]
    99 parents and 44 unaffected siblings participated.
    Siblings rated a much lower concern.
    Index Terms: Cri du chat-family stress and sibling reactions
  • James A E, Atkins L, Feingold M, Janower M L: The cri du chat syndrome. Radiology 92:50-52, 1969. [PubMed: 5762093]
    46,XX and XY,5p-.
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Kjaer I, Niebuhr E.: Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. AJMG 82:6-14, 1999. [PubMed: 9916835]
    23/35 patients from Niebuhr''s (1978) sample of 35 cited under 05p150.
    22 patients had terminal deletions at 5p13.3 (4), 5p14.1(8), 5p14.2(5), and 5p14.3(5); and one interstitial deletion p14.1->p15.2.
    The cranial base angle (n-s-ba) was reduced, along with malformations in the bony contours of the sella turcica and the clivus.
    Aberration: TD,ID
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cranial base in cri-du-chat syndrome
  • Kraker W J, Borell T J, Schad C R, Pennington M J, Karnes P S, Dewald G W, Jenkins R B: Fluorescent in situ hybridization: use of whole chromosome paint probes to identify unbalanced chromosome translocations. Mayo Clin. Proc. 67:658-662, 1992. [PubMed: 1434900]
    Case 2:
    46,XY,-5,+der(5)t(5;12)(p1?5;?).
    The patient was 19 years old with mental subnormality.
    Aberration: Simple translocation
    Index Terms: FISH
    No band
  • Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R: Trois cas de deletion partielle du bras court d''un chromosome 5. C. R. Acad. Sci. 257:3098-3102, 1963. [PubMed: 14095841]
    46,XX and XY,del(5)(p1).&46,XX and XY,del(5)(qter -> p1:).&The cri-du-chat syndrome was first described in this report.
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Mann J D, Rafferty J H: Cri-du-chat syndrome combined with partial C-group trisomy. J. Med. Genet. 9:289-292, 1972. [PMC free article: PMC1469139] [PubMed: 5079100]
    46,XX,t(5;11)(p1;q1).&"46,XX,t(5;11)(5qter -> 5p1::11q1 -> 11qter;11pter -> 11q1::5p1 -> 5pter)."&"46,XY,der(5)der(11)t(5;11)(p1;q1)mat."&"46,XX,-5,+der(5)t(5;11)(p1;q1)pat."
    Aberration: Reciprocal translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Michels V V, Medrano C, Venne V L, Riccardi V M: Chromosome translocations in couples with multiple spontaneous abortions. AJHG 34:507-513, 1982. [PMC free article: PMC1685330] [PubMed: 7081226]
    46,XY,inv(5).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient C95/1244 was 40 years old.
    46,XX,t(5;19)(p10;q10)
    A pregnancy was aborted in the first trimester.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Monteleone P L, Monteleone J A, Sekhon G S, Hamilton W, Volk S L R, Grzegocki J A, Tietjens M: "Partial trisomy 5 with a carrier parent t(5p-;9p+)." Clin. Genet. 9:437-440, 1976. [PubMed: 1261081]
    46,XY,t(5p-;9p+).&"46,XX,-9,+der(9)t(5p-;9p+)pat."&Features found in this 5p trisomic female were: long and narrow skull, decreased ear cartilage, micro-ophthalmia, bilateral colobomas, epicanthal folds, hypertelorism, wide-based nose, hypotonia, long thin phalanges and bloody emesis.
    Aberration: Simple translocation
    Index Terms: Coloboma,Ears ... anomalies (dysmorphic),Emesis ... bloody,Epicanthal folds,Eye ... microphthalmia,Hypertelorism,Hypotonia,Microphthalmia,Ocular (optic) anomalies
    No band
  • Newton M S, Cunningham C, Jacobs P A, Price W H, Fraser I A: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin. Genet. 3:226-248, 1972. [PubMed: 4262353]
    M. R. C. Registry No. K156-278-67 in this report.
    46,XX,del(5)(p1).&46,XX,del(5)(qter -> p1:).
    Aberration: Terminal deletion
    No band
  • Phelan M C, Morton C C, Stevenson R E, Tanzi R E, Stewart G D, Watkins P C, Gusella J F, Amos J A: "Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21." AJHG 43:511-519, 1988. [PMC free article: PMC1715513] [PubMed: 2902789]
    Patient D. E.
    45,XX,t(5;21)(p13;q11) or (p14;q21).
    Multiple congenital anomalies are present.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-,21p and q-
    No band
  • Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O''Brien P, Biesecker L, du Manoir S, Ried T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case No. JS2:
    46,XX,del(5)(p13.3p14.2) or (p14.2p15) or add(5)(p13.3) by GTG.
    Mother of a child with cognitive learning problems and mild dysmorphic features.
    Index Terms: SKY
  • Silengo M C, Andria G: "Partial monosomy 22 as the result of an unbalanced translocation 5;22 in a patient with cri-du-chat syndrome." Hum. Genet. 34:319-322, 1976. [PubMed: 1002156]
    Patient C.P. in this report.
    45,XY,-5,-22,+t(5;22)(p1;q1).&"45,XY,-5,-22,+t(5;22)(5qter -> 5p1?::21q1? -> 21qter)."
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Singer H, Scaife N: "Simultaneous occurrence of ring ""G"" chromosome and group ""B"" pericentric inversion in the same individual: Case report and review of the literature." Pediatrics 46:74-83, 1970. [PubMed: 5423459]
    46,XY,inv(5)(pq),r(21).
    Aberration: PI,RI
    No band
  • Singh D N, Osborne R A, Wiscovitch R A: "Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+)." Humangenetik 20:361-365, 1973. [PubMed: 4768112]
    46,XX,t(5;11)(p1;q2).&"46,XX,t(5;11)(5qter -> 5p1::11q2 -> 11qter;11pter -> 11q2::5p1 -> 5pter)."&"46,XY,-5,+der(5)t(5;11)(p1;q2)mat."
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Speed R M, Johnston A W, Evans H J: Chromosome survey of total population of mentally subnormal in north-east of Scotland. J. Med. Genet. 13:295-306, 1976. [PMC free article: PMC1013419] [PubMed: 134160]
    46,XX,t(5;7)(p13 or 14;q35 or 36).&"46,XX,der(5)der(7)t(5;7)(p13 or 14;q35 or 36)mat."&Two individuals have deletion of one-third of the short arm of chromosome 5.&"46,X?,-5,+der(5)t(5;7)(p13 or 14;q35 or 36)mat."
    Aberration: Simple translocation
    No band
  • Taylor A I: Patau''s, Edwards'' and cri du chat syndromes: A tabulated summary of current findings. Develop. Med. Child Neurol. 9:78-86, 1967. [PubMed: 4860156]
    Data on gestation, birth-weight, parental ages, sex ratio, dermatoglyphics and other features are usefully compiled in this report.
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome),Edwards syndrome (trisomy 18),Patau syndrome (trisomy 13)
    No band
  • Tsenghi C, Metaxotou-Stavridaki C, Strataki-Benetou M, Kalpini-Mavrou A, Matsaniotis N: Chromosome studies in couples with repeated spontaneous abortions. Obst. Gynecol. 47:463-468, 1976. [PubMed: 943737]
    Couple 2 in this report.
    46,XY,t(5;18)(p1+;q2-).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Velagaleti G V N, Morgan D L, Tonk V S.: Trisomy 5p. A case report and review. Ann. Genet. 43:143-145, 2000. [PubMed: 11164196]
    46,XY,der(22)t(5;22)(p10;q10)mat.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 5p+
    No band
  • Vuorenkoski V, Lind J, Partanen T J, Lejeune J, Lafourcade J, Wasz-Hockert O: Spectrographic analysis of cries from children with maladie du cri du chat. Ann. Paediatr. Fenn. 12:174-180, 1966. [PubMed: 5964858]
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Zhang S, Xie T, Tang Y, Zhang S, Xu Y: The prevalence of chromosome diseases in the general population of Sichuan, China. Clin. Genet. 39:81-88, 1991. [PubMed: 2015698]
    46,XY,t(5p;12q).
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105611

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