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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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  • Same entry as in 05p13.3 (Cervera et al, 2005).
  • Arts W F M, Hofstee Y, Drejer G F, Beverstock G C, Oosterwijk J C.: Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10. Neuropediat. 26:41-44, 1994. [PubMed: 7791950]
    Mother and gandmother=46,XX,t(5;10)(p15.3;p12.2).,Proband=46,XY,der(5)t(5;10)(5qter->5p15.3::10p12.2->10pter)mat.
    The child had MCA, hypoplasia of the cerebellum and brainstem, and his cry was high-pitched.
    Aberration: Reciprocal translocation
    MIM#: 213000
    Chromosomal Aneuploidy: 5p-;10p+
    Index Terms: Cerebellar hypoplasia
  • 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. 10362 in this report.
    46,XX,t(5;7)(p153;p11).&"46,XX,t(5;7)(5pter -> 5p153::7p11 -> 7qter;7pter -> 7p11::5p153 -> 5qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Aviram-Goldring A, Daniely M, Frydman M, Shneyour Y, Cohen H, Barkai G.: Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24). AJMG 90:120-122, 2000. [PubMed: 10607949]
    Mother=46,XX,t(5;15)(p15.3;q24).,46,XY,der(5)t(5;15)(5qter->5p15.3::15q24->15qter)mat.,FISH studies confirmed the cryptic translocation.
    The seventh pregnancy was karyotyped. Two previous pregnancies were terminated following diagnosis of congenital diaphragmatic hernia.
    Aberration: Reciprocal translocation
    MIM#: 142340
    Index Terms: Hernia congenital diaphragmatic
  • Barnes I C S, Maltby E L: Prometaphase chromosome analysis as a routine diagnostic technique. Clin. Genet. 29:378-383, 1986. [PubMed: 3742844]
    Case No. 3.
    Aberration: Inversion pericentric
    Negative band
  • Erratum AJHG 57:989, 1995.
    Gersh M, Goodart S A, Pasztor L M, Harris D J, Weiss L, Overhauser J.: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. AJHG 56:1404-1410, 1995. [PMC free article: PMC1801088] [PubMed: 7762563]
    Family 1:
    The proband was 13 mo old with the cry.
    Same family cited under 03q262 (Aqua et al 1995).
    Family 2:
    Family 3;
    46,XX,der del(5)(p15.3)mat.
    Mother had an unusual cry as an infant but is now normal and healthy. The proband had an unusual cry and a small head.
    Family 4:
    46,XX and XY,del(5)(p15.3)pat.
    All three children have had an abnormal cry. Father had some college education (!) but no dysmorphic features were noted. the proband was the middle child.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cat-like cry,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
    Negative band
  • Jalal S M, Law M E, Christensen E R, Spurbeck J L, Dewald G W: Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AJMG 46:98-103, 1993. [PubMed: 8494038]
    Case 4:
    46,XY,-5,+der(5)t(5;8)(p15.3;p21).&"46,XY,-5,+der(5)t(5;8)(5qter -> 5p15.3::8p21 -> 8pter)."
    The 15 mo-old patient had multiple minor anomalies and was referred for fragile-X testing.
    Chromosome specific paint for 8 was used to show the two normal 8s and the translocated segment.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 8q+,5p-
    Index Terms: Chromosome specific paints CSP
    Negative band
  • Kumar D, Heath P R, Blank C E: Clinical manifestations of trisomy 5q. J. Med. Genet. 24:180-184, 1987. [PMC free article: PMC1049956] [PubMed: 3573004]
    46,XX,inv(5)(p153q35).&46,XX,rec(5)dup q,inv(5)(p153q35)mat.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 5q+
    Negative band
  • Laczmanska I, Stembalska A, Gil J, Czemarmazowicz H, Sasiadek M.: Cri du chat syndrome determined by the 5p15.3->pter deletion -- diagnostic problems. Europ. J. Med. Genet. 49: 87-92, 2006. [PubMed: 16473315]
    46,XX,del(5)(p15.3)de novo
    The patient was 8 days old with the cat-like cry buty not the dysmorphic features.
    The probe CdCS gave positive results, however one signal was ''less intense'' and telomere signal showed the deletion.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
    Index Terms: Cri du chat syndrome
  • Migliori M V, Cherubini V, Bartolotta E, Pettinari A, Pecora R: Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality. AJMG 49:108-110, 1994. [PubMed: 8172236]
    Patient TG:
    46,XX,r(5)(p15.3q35.3)de novo.
    Patient was 3 years old, there were some abnormal mosaic cells.
    Aberration: Ring chromosome
    Negative 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]
    Subjects 6 and 7.
    Aberration: Simple translocation
    Negative band
  • Reddy K S, Fugate J K.: A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements. Clin. Genet. 56:328-332, 1999. [PubMed: 10636453]
    46,XY/XX,add(18)(p11.32).ish der(18)t(5;18)(p15.3;p11.32)(wcp18-.wcp5+,tel5p+,tel18p-,D5S23-).
    The 20 year old proband has a mild phenotype and borderline intelligence, and the father had some learning difficultues at school.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5p+;18p-
  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]
    Case 4:
    At age of 25 years, height 0f 1.80m., dysmorphic features, and by FISH, deletion of cri-du-chat segment was not found.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
  • Riordan D, Vust A, Wickstrom D E, Brown J, Chudley A E, Tomkins D, Chudoba I, Dawson A J.: Identification of a dup(5)(p15.3) by multicolor banding. Clin. Genet. 61:277-282, 2002. [PubMed: 12030892]
    The 7 year-old patient was referred for evaluation because of developmental delay and attentional difficulty
    46,XX,add(5)mat.ish dup(5)(p15.3)(wcp5+,D5S271+,D5S23+,C84C11/T3++,pcp5p15.3++).,The patient''s biological mother and maternal half-brother were carriers of this chromosome duplication.
    The mother had learning and behavioral difficulties at school. The half-brother is non-dysmorphic but had learning problems and ADD.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5p+
  • Taviaux S, Moncla A, Giraud F, Demaille J, Mattei J F, Mattei M G: Diagnosis of minute chromosome changes using molecular cytogenetics. Ann. Genet. 32:204-210, 1989. [PubMed: 2610486]
    Observation No. 1.
    Phenotypically normal individuals.
    Aberration: Reciprocal translocation
    Negative band
  • Tonnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheuer V, Neitzel H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet. Cell Genet. 93:188-194, 2001. [PubMed: 11528111]
    8/100 cases referred for evaluation of congenital malformations and dysmorphic features.
    Case 3=46,XY,del(5)(p15.3).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
  • Vermeesch J R, Falzetti D, Van Buggenhout G, Fryns J-P, Marynen P.: Chromosome healing of constitutional deletions studied by microdissection. Cytogenet. Cell Genet. 81:68-72, 1998. [PubMed: 9691179]
    Patient 4:
    46,XX,del(5)(p15.5->pter)de novo
    The patient had cri-du-chat syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
    Index Terms: Healing chromosomes (telomere synthesis)
  • Viljoen D L, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J: Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization. Clin. Genet. 42:105-109, 1992. [PubMed: 1395079]
    Patient 1: A.D.
    45,XX,-5,-21,+der(5)t(5;21)(5qter -> 5p15.3::21q22.1 -> 21qter).
    Patient, born on December 10, 1974, had microcephaly, nasal prominence, hypertelorism, and narrow palpebral fissures.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 21q-,5p-
    Negative band
  • Vostanis P, Harrington R, Prendergast M, Farndon P.: Case reports of autism with interstitial deletion of chromosome 17 (p11.2p11.2) and monosomy of chromosome 5 (5pter->5p15.3). Psychiat. Genet. 4:109-111, 1994. [PubMed: 8055249]
    Case report 2:
    45,X,psu dic(Y;5)(Ypter->Yq12::5p15.3->5qter)de novo
    The patient has ''Asian'' ancestry, and was born in 1975 in England. He fulfilled DSM-III-R criteria for autistic disorder (American Psychiatric Association, 1987, Code 299.00) and ICD-10 criteria for childhood autism (World Health Organization, 1992, Code F84.0).
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 5p-
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-;15q+
    Negative band
  • Zhang S, Tang Y, Dai F, Niebuhr E: "5p;12q translocation with manifestations of cri-du-chat syndrome and Marfanoid arachnodactyly." Clin. Genet. 37:153-157, 1990. [PubMed: 2311266]
    Small tip of 5p ie 5pter to 5p15.3 seems to be lost.
    Aberration: Simple translocation
    MIM#: 154700
    Index Terms: Marfanoid arachnodactyly,Cri-du-Chat syndrome (Cat's cry syndrome)
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105791


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