05q130

5q13

Publication Details

  • Adams R H, Lemons R S, Thangavelu M, Le Beau M M, Christensen R D: Interstitial deletion of chromosome 5, del(5), in a newborn with Down syndrome and an unusual hematological disorder. Am. J. Hemat. 31:273-279, 1989. [PubMed: 2525873]
    47,XY,+21,del(5)(q13q31).
    Aberration: Interstitial deletion
    Negative band

  • Autio S, Pihko H, Tengstrom C: Clinical features in a de novo interstitial deletion 15q13 to q15. Clin. Genet. 34:293-298, 1988. [PubMed: 3228997]
    Patient A.L.
    46,XY,del(15)(q13q15).
    The boy had several dysmorphic features and suffering from mental and motor retardation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 15q-
    Negative band

  • Same entry as in 01p310,04q310,05p130 (Boue and Gallano, 1984).

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(5;12)(q13;q11); t(5;13)(q13;q14); t(5;21)(q13;q22).
    Aberration: Reciprocal translocation
    Negative band

  • Burlet P, Burglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J.: Large scale deletions of the 5q13 region are specific to WerdnigHoffmann disease. J. Med. Genet. 33:281-283, 1996. [PMC free article: PMC1050575] [PubMed: 8730281]
    Capon F, Cicero S L, Levato C, Novelli G, Dallapiccola B.: De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy. Prenat. Diag. 15: 93-94, 1995. [PubMed: 7740007]
    Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, Cohen D, Weissenbach J, Munnich A: De novo and inherited deletions of the 5q13 region in Spinal muscular atrophies. Science 264:1474-1477, 1994. [PubMed: 7910982]
    10 families were studied.
    DNA markers flanking the SMA gene D5S629 and D5S637 were used.
    Aberration: Interstitial deletion
    MIM#: 271225
    Chromosomal Aneuploidy: 5q-
    Index Terms: Spinal muscular atrophies
    Negative band

  • Crowder W E, Yeast J D, Falk R E: Prenatal diagnosis of a 5/15 translocation with 5p and proximal 5q trisomy. Cytogenetic and phenotypic findings. BD-OAS XVIII(No. 3A):143-151, 1982. [PubMed: 7126787]
    46,XY,t(5;15)(5pter -> 5q13::15q13 -> 15qter;15pter -> 15q13::5q13 -> 5qter)mat.&"46,XX,-15,+der(5),t(5;15)(q13;q13)pat."&"46,XX and XY,t(5;15)(q13;q13)mat and pat."&"Pregnancy was terminated; several anomalies were present in the fetus."
    Aberration: Reciprocal translocation
    Negative band

  • Egozcue J, Marina S, Templado C: Meiotic behaviour of two human reciprocal translocations. J. Med. Genet. 18:362-365, 1981. [PMC free article: PMC1048758] [PubMed: 7328616]
    Patient (case 2) was 25 years old and investigated because his wife had given birth to a malformed fetus at 8 months gestation.
    46,XY,t(5;7)(q13;q11).
    Aberration: Reciprocal translocation
    Negative band

  • Fryns J P, van den Berghe H: Paracentric inversion in man: personal experience and review of literature. Hum. Genet. 54:413-416, 1980. [PubMed: 7399530]
    Family B.
    inv(5)(q13q34).
    Aberration: Inversion paracentric
    Negative band

  • Hordnes K, Engebretsen L F, Knudtzon J.: De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation. Clin. Genet. 48: 321-323, 1995. [PubMed: 8835329]
    46,XX,t(5;21)(q13;q22)de novo.
    Proband was 18 months old and had MCA.
    Aberration: Reciprocal translocation
    Index Terms: Acrobrachycephaly ... ventriculomegaly, pulmonary stenosis, ectopic anus
    Negative band

  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case No. Ia-1 from R. Bernstein.
    mos46,XY/46,XY,t(5;16)(q13;p11)(10.8%).
    A normal male abortus.
    Aberration: Reciprocal translocation
    Negative band

  • 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. 606.
    46,XY,t(5;16)(q13;p13).
    Aberration: Reciprocal translocation
    Negative band

  • Kessel E K, Pfeiffer R A: Tandem duplication (5q13 to 22) in a mentally deficient girl. Hum. Genet. 52:217-220, 1979. [PubMed: 511177]
    46,XX,dup(5)(q13 -> q22).&She had facial dysmorphy characterized by epicanthus, downward-slanting eyes, a bulbous nose, micrognathia, ears large and floppy, high palate and the alveolar ridge appeared enlarged and with mental retardation. The karyotypes of parents were normal.
    Aberration: Duplication
    Index Terms: Ears ... anomalies (dysmorphic),Epicanthal folds,Eye ... downward slant,Facial dysmorphism,Micrognathia,Palate ... high arched
    Negative band

  • Li S Y, Chen Y C J, Lai T J, Hsu C Y, Wang Y C: Molecular and cytogenetic analyses of autism in Taiwan. Hum. Genet. 92:441-445, 1993. [PubMed: 8244333]
    Case Au-2021.
    46,XY,t(5;6)(q13;p23)de novo.
    Number of patients with fragile sites on X, autosomes and a pericentric inversion of Y were also reported.
    Aberration: RT,FS
    Index Terms: Autis(m)(tic)
    Negative band

  • Magenis E, Olson S, 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. 1746.
    46,XY,inv(5)(q13q35)mat.
    Aberration: Inversion paracentric
    Negative band

  • Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Nielsen J, Rasmussen K: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10:161-177, 1976. [PubMed: 786515]
    Case No. 12,491 in this report.
    46,XY,t(5;9)(q13;q33).&"46,XY,der(5)der(9)t(5;9)(q13;q33)pat."
    Case No. 18,193 in this report.
    46,XY,der(5)der(15)t(5;15)(q13;q25)mat.
    Aberration: Simple translocation
    Negative band

  • Ohdo S, Madkoro H, Hayakawa K: Interstitial deletion of the long arm of chromosome 5:46,XX,del(5)(q13q22). J. Med. Genet. 19:479, 1982. [PMC free article: PMC1048972] [PubMed: 7154050]
    Aberration: Interstitial deletion
    Negative band

  • Richkind K E, 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. 627.
    46,XX,t(5;18)(q13;p11)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Rodewald A, Zankl M, Sitzmann F C, Zang K D: Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations. Clin. Genet. 22:226-230, 1982. [PubMed: 7151308]
    Case KB 160779:
    46,XX,del(5)(pter -> q13::q22 -> qter).
    Father:
    46,X,inv(Y)(p11q11).
    Aberration: Interstitial deletion
    Negative 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. TE1:
    46,XY,t(5;7)(q15;q11.23)ins(7;5)(q22 or 31 or q31.2 or q32;q13q15)
    Multiple miscarriages was the mode of ascertainment.
    Aberration: Direct insertion between two chromosomes
    Index Terms: SKY

  • Shears C W, 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. 1745.
    46,XX,inv(5)(q13q35)mat.
    Dr. Pettenati et al (1995) have probably and erroneously given the breakpoint as q12 instead of q13 for this case in their otherwise excellent review paper.
    Aberration: Inversion paracentric
    Negative band

  • Silengo M C, Luzzatti L, Centerwall W R, Costello J M, Parslow M: Interstitial deletion of the long arm of chromosome No. 5 in two unrelated children with congenital anomalies and mental retardation. Clin. Genet. 19:174-180, 1981. [PubMed: 7273460]
    Case 1, with severe hypotonia, developmental delay, frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds, was 26 months old. Parents had normal karyotypes including 9qh+ variant in the mother.
    46,XY, del(5)(pter -> q13::q15 -> qter).
    Case 2, with multiple congenital anomalies including cleft palate, epicanthal folds, anteverted nostrils, horseshoe kidneys and clubfeet, was 4 years old. Parents and a sister had normal karyotypes.
    46,XX,del(5)(pter -> q13::q22 -> qter or pter -> q15::q31 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Cleft lip/palate,Epicanthal folds,Foot ... talipes equinovarus (club foot),Hypotonia,Kidney ... malformations,Palpebral fissures ... antimongoloid slant
    Negative band

  • Stoll C, Levy J M, Roth M P: Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). J. Med. Genet. 17:486-487, 1980. [PMC free article: PMC1885931] [PubMed: 7205434]
    Patient was six months old and had mental retardation and other congenital anomalies. Parental karyotypes were normal.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
    Negative band

  • Same entry as in 03q250,04q350 (Warburton D, 1991).

  • 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,XX,t(5;8)(q13;p21).&"46,XX,t(5;11)(q13;q25)."&"46,XY,t(5;16)(q13;p11)."
    Data from Erlangen, Germany via Dr. Stengel-Rutkowski, Munich.
    46,XX,t(5;6)(q13;p23).
    Elective termination was performed.,Abnormalities include hypertelorism, epicanthus, simian crease, pes calcaneus, dilation of ureter, and incomplete lobulation of lung.
    Aberration: Reciprocal translocation
    Negative band

  • Wolff G, Back E, Arleth S, Rapp-Korner U: Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clin. Genet. 35:404-416, 1989. [PubMed: 2736789]
    Case No. 28.
    46,XX and XY,inv ins(10;5)(p11.2;q14q13).
    Aberration: Inverted insertions between chromosomes
    Negative band