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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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05p140

5p14
  • 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. 17667 in this report.
    46,XX,t(5;12)(p1405;q11).&"46,XX,t(5;12)(5pter -> 5p1405::12q11 -> 12qter;12pter -> 12q11::5p1405 -> 5pter)."&"47,XY,+der(12)t(5;12)(p1405;q11)mat."
    Patient I.P. No. 7675 in this report.
    46,XY,t(5;8)(p14;q11).&"46,XY,t(5;8)(5qter -> 5p14::8q11 -> 8qter;8pter -> 8q11::5p14 -> 5pter)."
    Aberration: Reciprocal translocation
    Positive band
  • Barker P E, Rabin M, Watson M S, Breg W R, Ruddle F H, Verma I M: Human c-fos oncogene mapped within chromosomal region 14q21 to q31. PNAS 81:5826-5830, 1984. [PMC free article: PMC391804] [PubMed: 6091112]
    Borgaonkar D S, Aronson M M, Greene A E, Coriell L L: "A(5;14) translocation, 46 chromosomes. Repository identification No. GM-589." Cytogenet. Cell Genet. 18:242, 1977. [PubMed: 872630]
    Borgaonkar D S, Blair S M, Lutz J B, Kelly T E, Tice R R, Delaney N V, Hutchinson J R, Bias W B: Cytogenetic study of a 5/14 translocation in man. J. Hered. 64:299-300, 1973. [PubMed: 4782671]
    Denney R M, Borgaonkar D S, Ruddle F H: Order of genes for NP and TRPRS on chromosome 14. BD-OAS XIV(No. 4):493-497, 1978. [PubMed: 110526]
    46,XY,t(5;14)(p14;q21).&"46,XY,t(5;14)(5qter->5p14::14q21->14qter;14pter->14q21::5p14->5pter)."&"46,XX and XY,der(5)der(14)t(5;14)(p14;q21)mat and pat."&Transmission of the reciprocal translocation through three generations is documented in this report.
    Aberration: Reciprocal translocation
    Index Terms: Oncogene
    Positive band
  • Begleiter M L, Rogers J C.: Genetic counseling for a family with two distinct anomalies: a case report of a neural tube defect and 5p- syndrome in a fetus. J. Genet. Counsel. 3:87-93, 1994. [PubMed: 11656675]
    46,XX,del(5)(p14)de novo
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
  • Berger R, Tonati G, Derre J, Ortiz M A, Martinetti J: ''Cri du chat'' syndrome with maternal insertional translocation. Clin. Genet. 5:428-432, 1974. [PubMed: 4368036]
    46,XX,ins(17;5)(q21;p14p15).&"46,XX,ins(17;5)(17pter -> 17q12::5p14 -> 5p15::17q21 -> 17qter)."
    Aberration: Direct insertion between two chromosomes
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive 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,ins(17;5)(q21;p14 -> pter).
    Aberration: Reciprocal translocation
    Positive band
  • Bourthoumieu S, Esclaire F, Terro F, Baclet M C, Bedu A, Dufetelle B, Gilbert B, Barthe D, Yardin C.: "Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q. Ann. Genet. 46:483-486, 2003. [PubMed: 14659787]
    Patient S.D.:
    46,XX,der del(5)(p14->pter).,Mother=46,XX,inv(5)(q12q32).
    Patient referred soon after birth because of hypotonia, growth retardation and respiratory distress. She was examined again at 24 months of age: microcephaly had worsened, and developmental delay was evident.
    Aberration: TD,IP
    Chromosomal Aneuploidy: 5p-
  • Chernos J E, Fowlow S B, Cox D M: Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. Clin. Genet. 41:266-269, 1992. [PubMed: 1606717]
    46,XX,inv(5)(p14q35).&46,XX,rec(5)(qter -> q35::p14 -> q35)mat.
    Infant with MCA and high-pitched mewing cry died at 50 hours of age.
    Aberration: PI,RE
    Positive band
  • Chia N L, Bousfield L R, Johnson B H: A case report of a de novo tandem duplication (5p)(p14 to pter). Clin. Genet. 31:65-69, 1987. [PubMed: 3829442]
    Case M was 5 years old.
    46,XX,dup(5p)(p14 -> pter).
    Aberration: Duplication
    Positive band
  • Coco R, del Rey G: "Partial trisomy 13q inherited from balanced translocation (5;13)(p14;q13)." J. Genet. Hum. 26:303-310, 1978. [PubMed: 752064]
    Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    46,XY,t(5;13)(p14;q13).&"46,XY,t(5;13)(5qter -> 5p14::13q13 -> 13qter;13pter -> 13q13::5p14 -> 5pter)."&"46,XX,-5,+der(5)t(5;13)(p14;q13)pat."&The patient (Case 30) at 2 days was examined because of multiple congenital anomalies similar -> those found in 13q trisomy.
    Aberration: Reciprocal translocation
    Positive band
  • Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    Case 73.
    46,XX,del(5)(p14).
    Aberration: Terminal deletion
    Positive band
  • Daniel A: Structural differences in pericentric inversions. Application to a model of risk of recombinants. Hum. Genet. 56:321-328, 1981. [PubMed: 7239515]
    Case 1, B.B.S., 2450/77 in this report.
    46,XY,inv(5)(p14q15).
    Aberration: Inversion pericentric
    Positive band
  • de Azevedo Moreira L M, de Freitas L M, da Silva Peixoto L I, das Gracas de Freitas Sousa M, de Lourdes Bastos de Souza M.: A case of cri-du-chat syndrome with karyotype del(5)(p14),+mar. Brazil J. Genet. 18:125-128, 1995.
    Patient J.G.S.,000586.
    47,XX,del(5)(qter->p14:)de novo,+mar
    The characteristic phenotype of the cri-du-chat syndrome was present and camptodactyly of the third finger on the left hand.
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Dobbs M, Overhauser J, Wasmuth J J: Molecular analysis of a case of meiotic recombination leading to cri-du-chat syndrome. Cytogenet. Cell Genet. 47:5-7, 1988. [PubMed: 3356169]
    A mother who either had a large pericentric inversion or a balanced 5p;5q translocation had a child with the cri-du-chat syndrome.
    46,XX,inv(5)(p14q35).
    Patient F.P. with the typical cat cry.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Ebbin A J, Wilson M G, Towner J W: Recombinant of inversion 5. Clin. Res. 27:103A, 1979.
    46,XX and XY, der inv(5)(p14.2q33)pat.&46,XY,rec(5),dup q,inv(5)(p14.2q33)pat.&The small malformed infant thus has a duplication of the distal portion of 5q (from q33 -> qter) and a deletion of 5P (from p14.2 -> pter).
    Aberration: Inversion pericentric
    Positive band
  • Emanuel B S: Personal communication, 1978.
    46,XX,del(5)(qter -> p14:).
    Aberration: Terminal deletion
    Positive band
  • Flannery D B, Rogers W G, Byrd J R: Ring chromosome 5. Clin. Genet. 34:74-78, 1988. [PubMed: 3409543]
    r(5)(p14q33?).
    Patient was 2 1/2 months old.
    Parental karyotypes were normal.
    Aberration: Ring chromosome
    Positive band
  • Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B: The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin. Genet. 34:48-59, 1988. [PubMed: 3409538]
    Case 1 (Modena).
    46,XX,t(5;7)(p14;q21).&46,XX,-5,+der(5)(5qter -> 5p14::7q21 -> 7qter)mat.
    Patient died 38hrs after birth because of heart and respiratory failure.
    It is suggested that the majority of symptoms found in 7q trisomic patients are not specific, are little characteristic and are unable to evoke this specific chromosomal defect. Therefore the possibility of recognizing patients with duplications of 7q on clinical grounds alone is rather unrealistic.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+,5p-
    Positive band
  • Fryns J P: Follow-up of 16q deletions. AJMG 37:510, 1990. [PubMed: 2260596]
    Fryns J P, Bande-Knops J, van den Berghe H: Partial monosomy of the long arm of chromosome 16: a distinct clinical entity. Hum. Genet. 46:115-120, 1979. [PubMed: 429002]
    Case D.S. (a 7 month old) in this report.
    46,XY,t(5;16)(p14;q21 or q22)mat.&"Karyotypes of both parents were normal. However, the mother had a large 16qh variant region and the chromosome 16 involved in the t(5;16) translocation was similar. Characteristics of the patient were failure -> thrive, hypotonia and psychomotor retardation. Craniofacial dysmorphism included high forehead, large anterior fontanel, prominent and palpable metopic suture, mongoloid position of the eyes, low-set, poorly lobulated ears, and short neck."
    The patient is now 14 years old.
    Index Terms: Ears ... anomalies (dysmorphic),Eye ... mongoloid eye slits,Facial dysmorphism,Forehead ... high, convex,Hypotonia,Neck ... short
    Positive band
  • Giraud F, Mattei J F, Mattei M G, Ayme S: Les inversions pericentriques. A propos de 47 observations. J. Genet. Hum. 27:109-122, 1979. [PubMed: 161573]
    Observation No. 8 in this report.
    inv(5)(p14q14).
    Aberration: Inversion pericentric
    Positive band
  • Goodart S A, Butler M G, Overhauser J.: Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. Hum. Genet. 97:802-807, 1996. [PMC free article: PMC6715286] [PubMed: 8641700]
    46,XY,der inv(5)(qter->q31::p15.1->p14::,q12->p14::q12-q31::p15.1->pter)mat.
    Both have similar karyotypes but the mother is mildly affected whereas the son has features suggestive of cri-du-chat syndrome,
    It is suggested that the inversion process may have affected the expression of some of the cri-du-chat syndrome genes, along with a genomic imprinting or penetrance effect.
    Aberration: Inversion pericentric
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Harrison K J, Teshima I E, Silver M M, Jay V, Unger S, Robinson W P, James A, Levin A, Chitayat D.: Partial tetrasomy with triplication of chromosome (5)(p14-p15.33) in a patient with severe multiple congenital anomalies. AJMG 79:103-107, 1998. [PubMed: 9741467]
    46,XX,trp(5)(pter->p14::p14->p15.33::p15.33->qter)de novo
    The infant had MCA and died at 35 days of age due to bronchopneumonia.
    Aberration: TRIP
    Chromosomal Aneuploidy: 5p+
    Index Terms: Triplication 5p
  • Ioan D M, Dumitriu L, Museteanu P, Ioanitiu D, Pop T, Maximilian C: Cytogenetic investigation in 300 couples with recurrent fetal wastage. Romanian J. Med. 25:145-148, 1987. [PubMed: 3685845]
    46,XY,t(5;16)(p14;q21).
    Aberration: Simple translocation
    Positive band
  • Iwarsson E, Ahrlund-Richter L, Inzunza J, Rosenlund B, Fridstrom M, Hillensjo T, Sjoblom P, Nordenskjold M, Blennow E.: Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5. Mol. Hum. Reprod. 4:719-723, 1998. [PubMed: 9701795]
    46,XX,inv(5)(p14q35)
    The woman was 29 years old; her first child was diagnosed with a cri-du-chat syndrome (obviously a recombination product with a 5p-). She also had two spontaeous abortions.
    Healthy twins, chromosomally balanced, were delivered. 23 embryos were biopsied: 10 were unbalanced, nine balanced. Diagnosis performed within 3.5 hours.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 5p-
  • Jackson L G, Barr M: A 45,XY,5-,15-,t(5q15q) cri-du-chat child. J. Med. Genet. 7:161-163, 1970. [PMC free article: PMC1468817] [PubMed: 5519604]
    Jackson L G, Barr M, Aronson M M, Greene A E, Coriell L L: "A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5. Repository identification No. GM-344." Cytogenet. Cell Genet. 15:400-401, 1975. [PubMed: 1225499]
    45,XY,del(5)(p14)t(5;15)(p14;q1)/45,XY,del(5)(p14)t(5;15)(p14;q1)t(9;11) (p24;q23).&"45,XY,del(5)(qter -> p14:)t(5;15)(5qter -> 5p14::15q1 -> 15qter)/45,XY,del(5)(qter -> p14:)t(5;15)(5qter -> 5p14::15q1 -> 15qter)t(9;11)(9qter -> 9p24::11q23 -> 11qter;11pter -> 11q23::9p24 -> 9pter)."
    Both parents and a sib have normal karyotypes.
    Aberration: Double translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Joan D, Grigorescu A, Klepsh I, Maximilian C: An inherited pericentric chromosomal inversion of chromosome 5 associated with Klinefelter''s syndrome. Acta Med. Auxol. 13:117-120, 1981.
    Patient M.I., 150359, was seen at age 21 years in the Endocrine clinic.
    47,XXY,inv(5)(p14q35)mat.&46,XX,inv(5)(p14q35).
    Comments are made about the relationship of the inversion and sex chromosome nondisjunction, and weak fertility of the mother.
    Aberration: Inversion pericentric
    Index Terms: Klinefelter syndrome
    Positive band
  • Kitsiou-Tzeli S: Personal communication, 1984.
    Kitsiou-Tzeli S, Dellagrammaticas H D, Papas C B, Ladas I D, Bartsocas C S: Unusual ocular findings in an infant with cri-du-chat syndrome. J. Med. Genet. 20:304-307, 1983. [PMC free article: PMC1049125] [PubMed: 6620332]
    46,XX,t(5;13)(p14;q33).,46,XX or XY,der(5)der(13)t(5;13)(p14;q33)mat.,46,XY,del(5)t(5;13)(5qter->5p14:)mat.,This description of the proband''s karyotype was provided by the authors in their reprint. However, I think the interpretation of the karyotype and/or the breakpoints is erroneous. The proband must have inherited the translocated (ie deleted) number 5 chromosome; therefore the description should read: 46,XY,der(5)t(5;13)(p14;q33)mat. The original interpretation in the paper seems accurate to me.
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome),Ocular (optic) anomalies
    Positive band
  • Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, Kinoshita F, Matsumoto T, Moriuchi H. : Genotype-phenotype correlation of 5p- syndrome: pitfall of diagnosis. J. Hum. Genet. DOI=10.1007/s10038-004-0213-9; 50:26-29, 2004 and 2005. [PubMed: 15602631]
    Data on six patients are presented. The authors found that detailed analyses by FISH and parental studies on 4 of the cases showed that the initial interpretation of interstitial deletions had to be revised. Some of the cases were the result of segregation of translocated chromosomes and were missing the terminal ends of the short arm.,The descriptions are not very clear for me (DSB) to put individual karyotypes of the patients.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 5p-
  • 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 5:
    mos46,XY,dup(5)(p14p15.3)/46,XY
    Aberration: Duplication
    Chromosomal Aneuploidy: 5p+
  • Kreiger D, Palmer C G, Biegel A: Human autosomal deletion mapping and HL-A. Humangenetik 23:159-160, 1974. [PubMed: 4852303]
    46,XX,del(5)(p14).
    Aberration: Terminal deletion
    Positive band
  • Lapierre J M, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D, Romana S, Wiss J, Benzaken B, Aurias A, Tachdjian G.: Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann. Genet. 41:133-140, 1998. [PubMed: 9833066]
    Sample viii=46,XX,del(5)(p14).,Sample ix=46,XX,der(5)t(5;10)(p14;p13).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5p-;10p+
    Index Terms: CGH
  • Lejeune J, Dutrillaux B, Rethore M O, Prieur M, Couturier J, Carpentier S, Raoul O: Analysis of 30 cases of translocation by the controlled heat denaturation. In: Modern aspects of cytogenetics: Constitutive heterochromatin in man 191-200, 1972.
    46,XY,der(5)t(5;12)(p14;qter).
    Aberration: Simple translocation
    Positive band
  • Marinescu R C, Mamunes P, Kline A D, Schmidt J, Rojas K, Overhauser J.: Variability in a family with an insertion involving 5p. AJMG 86:258-263, 1999. [PubMed: 10482876]
    A four generation family is presented.
    Individual II-2=46,XX,inv(9)(p11q13),ins(16;5)(q22;p14p15.3).,Individuals III-1, III-2, IV-5=46,XX or XY,ins(16;5)(q22;p14p15.3).,Individuals III-5, IV-2, IV-3=46,XX or XY,del(5)(p14p15.3). ,Individuals III-6, IV-6=46,XY,der(16)ins(16;5)(q22;p14p15.3).
    The 5p+ individuals have mild mental and developmental delay. The three 5p- individuals showed a variable cri-du-chat phenotype with respect to mental delay.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 5p-;5p+
  • Martinez J E, Tuck-Muller C M, Superneau D, Wertelecki W: Fertility and the cri du chat syndrome. Clin. Genet. 43:212-214, 1993. [PubMed: 8330455]
    Patient N.G. and her mother S.G.
    46,XX,del(5)(p14p15.3).
    Mother, a 19 year old, and the infant had typical characteristics of the syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
    Index Terms: Fertility,Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Nagel H T C, Vandenbussche F P H A, Keirse M J N C, Oepkes D, Oosterwijk J C, Beverstock G, Kanhai H H H.: Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling: a controlled trial with infant follow-up. Prenat. Diag. 18:465-475, 1998. [PubMed: 9621380]
    46,XX,t(5;6)(p14;q25).
    Aberration: Reciprocal translocation
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship B.E. in this report.
    t(5;21)(p14;q22).
    Sibship P.L. in this report.
    t(5;10)(p14;p15).
    Aberration: Reciprocal translocation
    Positive band
  • Neu K W, Friedman J M, Howard-Peebles P N: Hemifacial microsomia in Cri du Chat (5p-) syndrome. J. Craniofac. Genet. Develop. Biol. 2:295-298, 1982. [PubMed: 7183708]
    46,XY,del(5)(p14).&Parental karyotypes were normal. Patient was 9 months old.
    Aberration: Terminal deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome),Hemifacial microsomia,Microsomatia (microsomia)
    Positive band
  • Niebuhr E: Localization of the deleted segment in the cri-du-chat syndrome. Humangenetik 16:357-358, 1972. [PubMed: 4641843]
    46,XY,t(5;22)(p14;p1).&"46,XX and XY,-5,+der(5)t(5;22)(p14;p1)pat."&The author suggests that 05p140 and 05p150 are the pathogenetic segments for the cri du chat syndrome.
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 741-75.
    mos46,XX/46,XX,del(5)(p14).
    Aberration: Terminal deletion
    Positive band
  • Overhauser J, Beaudet A L, Wasmuth J J: A fine structure physical map of the short arm of chromosome 5. AJHG 39:562-572, 1986. [PMC free article: PMC1684052] [PubMed: 2878609]
    Overhauser J, Golbus M S, Schonberg S A, Wasmuth J J: Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. AJHG 39:1-10, 1986. [PMC free article: PMC1684023] [PubMed: 3752077]
    Six individuals in a family were studied.
    46,XX or XY,del(5)(p14).
    Subjects 2, 9, and 11.
    del(5)(5qter -> 5p14:).&del(5)(5qter -> 5p14::5p15.1 -> 5pter).&del(5)(5qter -> 5p14::5p15.2 -> 5pter).
    Aberration: ID,TD
    Chromosomal Aneuploidy: 5p-
    Positive band
  • Priest J H, 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. 536.
    46,XX,t(5;6)(p14;p25).
    Aberration: Reciprocal translocation
    Positive band
  • Seidel H, Miller K, Spoljar M, Stengel-Rutkowski S: 45,X constitution in a H-Y antigen positive boy with partial monosomy 5p. Clin. Genet. 19:290-297, 1981. [PubMed: 7273470]
    Patient, W. J., 020477. Karyotypes of parents were normal.
    45,X,del(5)(qter -> p1400:).
    Aberration: Terminal deletion
    Positive band
  • Sreekantaiah C, Kronn D, Marinescu R C, Goldin B, Overhauser J.: Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. AJMG 86:264-268, 1999. [PubMed: 10482877]
    Patient D.C. was 4 years old and evaluated for developmental delay.
    46,XX,der(5)del(5)(p15.3)inv dup(5)(p15.3p14) or 46,XX,der(5)(:p14->p15.3::p15.3->qter).
    Aberration: TD,DU
    Chromosomal Aneuploidy: 5p-;5p+
  • Stoll C, Rethore M O, Laurent C, Lejeune J: Le contretype de la maladie du cri du chat: la trisomie 5p. Arch. Fr. Ped. 32:551-561, 1975. [PubMed: 1180635]
    Case 3 (141064) in this report.
    der(12)t(5;12)(p14;q245)mat.&Reported earlier by Laurent and Robert. Ann. Genet. 9:113-122, 1966.
    Cases 1 and 2 are reported under 05p100 (Carpentier et al, 1972).
    Cases 1 (110947) and 2 (080464) in this report.
    der(13)t(5;13)(p14;q34)mat.&Reported earlier by Lejeune et al Ann. Genet. 8:11-15, 1965.
    Cases 4 (010853) and 5 (180355) in this report.
    46,XX and XY,inv(5)(p14q35).&46,XX,rec(5)dup5(p14q35)mat.&46,XX,rec(5)def5(p14q35)mat.&Two cases with trisomy of region 5p14 -> 5pter were found in this family.
    Five subjects have been reported but all of them were reported earlier.
    Aberration: PI,RE,ST
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Tabor A, Jensen L K, Lundsteen C, Niebuhr E: "A 5;7,5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child." J. Med. Genet. 18:307-309, 1981. [PMC free article: PMC1048740] [PubMed: 7277428]
    Daughter:
    46,XX,-5,-7,+rec(5)t(5;7)(q34;p14)mat,+der(7)t(5;7)(q34;p14)mat.&46,XX,-5,-7,+rec(5)(5pter -> 5q34::7p14 -> 7pter)mat,+der(7)(7qter -> 7p14::5q34 -> 5qter)mat.
    Mother:
    46,XX,t(5;7)(5;12)(p14q34;p14;q21).&"46,XX,t(5;7)(5;12)(7pter -> 7p14::5q34 -> 5p14::12q21 -> 12qter;7qter -> 7p14::5q34 -> 5qter;12pter -> 12q21::5p14 -> 5pter)."
    Patient was karyotyped because of three spontaneous abortions. The authors claim that this is the first case illustrating two independently segregating translocations. A phenotypically normal mother had two apparently balanced translocations while her phenotypically normal daughter had inherited only one translocation.
    Aberration: Double translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Tamraz J, Rethore M O, Lejeune J, Outin C, Goepel R, Stievenart J L, Iba-Zizen M T, Cabanis E A: Brain morphometry using MRI in cat cry syndrome. About seven patients, with revue of the literature. Ann. Genet. 36:75-87, 1993. [PubMed: 8215223]
    Patient 1, JOU. C., IP No. 31398:
    46,XX,del(5)(pter -> p14.2.
    Patient 2, CAI. M, IP No. 5386.
    46,XX,del(5p).
    Patient 3, NAS. S., IP No. 28155.
    46,XX,del(5)(pter -> p15.31).
    Patient 4, BLA. JB., IP No. 32609.
    46,XY,r(5)(p14q35).
    Patient 5, DAG. M., IP No. 3754.
    46,XX,del(5)(pter -> p14.2).
    Patient 6, SAU. C., IP No. 10652.
    46,XX,del(5)(pter -> p14).
    Patient 7, HAC. H., IP No. 25595.
    46,XX,del(5p).
    Aberration: TD,RI
    Chromosomal Aneuploidy: 5p-
    Index Terms: MRI,Cri-du-Chat syndrome (Cat's cry syndrome),Brain morphometry
    Positive band
  • Tsao C Y, Wenger G D, Bartholomew D W.: Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. AJMG DOI=10.1002/ajmg.a.30592; 134A:198-201, 2005. [PubMed: 15690344]
    46,XX,der(5)del(5)(p14)inv(5)(p14q32)[25]/46,XX,del(5)(p15.2)[7]de novode novo.ish der(5)(5ptel-,D5S23-,wcp5+).
    The 3 year old had dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglcinemia, and heterotopia in her brain.
    Aberration: PI,TD
    Chromosomal Aneuploidy: 5p-
  • 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. 6184.
    inv(5)(p14q14).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Tzancheva M, Krachounova M, Damjanova Zv: "Two familial cases with trisomy 15qdist due to a rcp(5;15)(p14;q21)." Hum. Genet. 56:275-277, 1981. [PubMed: 7195379]
    46,XX and XY,t(5;15)(p14;q21).&"46,XX and XY,-5,+der(5)t(5;15)(5qter -> 5p14::15q21 -> 15qter)mat and pat."&Two related children with partial trisomy of 15q are reported here.
    Aberration: Simple translocation
    Positive band
  • Van Hemel J O, Eussen H J.: Interchromosomal insertions. Identification of five cases and a review. Hum. Genet. 107:415-432, 2000. [PubMed: 11140939]
    Case 1:
    46,XY,rec?(5)ins(5;11)(p14;q14q24).ish del(5)(p14)(wcp5a),ins(5;11)(wcp11+;wcp11+).
    The proband was mentally retarded and microcephalic. The dir ins was present in three generations.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 5p-
    No band
  • Weber B, Schempp W, Orth U, Seidel H, Gal A: A Y/5 translocation in a 45,X male with cri du chat syndrome. Hum. Genet. 77:145-150, 1987. [PubMed: 3653888]
    The boy was born in 1977.
    45,X,-Y,-5,+der(5)(5qter -> 5p14::Yp11.31 -> Ypter).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Zenger-Hain J L, Van Dyke D L, Wiktor A, Walker H, Feldman G L: Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. AJMG 47:1198-1201, 1993. [PubMed: 8291556]
    46,XX,inv dup(5)(p14p15.3)de novo.
    The 2 year-old patient had motor and language developmental delay, bilateral strabismus, posteriorly angulated ears, a high arched palate, and a small ASD.
    Aberration: II,DU
    Chromosomal Aneuploidy: 5p+
    Index Terms: Inverted duplication
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105566
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