U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Show details

02q370

2q37
  • Same entry as in 0Xq21.1 (Waters et al, 2001).
  • Anderlid B-M, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M.: Subtelomeric rearrangements detected in patients with idiopathic mental retardation. AJMG 107:275-284, 2002. [PubMed: 11840483]
    Schoumans J, Anderlid B-M, Blennow E, Teh B T, Nordenskjold M.: The performance of CGH array for the detection of cryptic constitutional chromosome imbalances. J. Med. Genet. 41:198-202, 2004. [PMC free article: PMC1735686] [PubMed: 14985382]
    Patient 1: 46,XX,del(2)(q37)de novo
    Patient, born in 1988, had dysmorphic features and mild MR.
    Patient 2:46,XX,der(4)t(2;4)(q37;q35)pat.,Father of patient 2:46,XX,der t(2;4)pat.
    Aberration: ST,TD
    Chromosomal Aneuploidy: 2q-;2q+;4q-
    Index Terms: CGH array
  • Anton E, Vidal F.: Reciprocal translocations: tracing their meiotic behavior. Genet. in Med. 10: 730-738, 2008. [PubMed: 18813133]
    Case P5=46,XY,t(2;6)(q37;p21).
    Aberration: Reciprocal translocation
  • Bacino C A, Kashork C D, Davino N A, Shaffer L G.: Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. AJMG 92:250-255, 2000. [PubMed: 10842290]
    McKenzie L J, Cisneros P L, Torsky S, Bacino C A, Buster J E, Carson S A, Simpson J L, Bischoff F.: Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products. AJMG 121A:56-59, 2003. [PubMed: 12900903]
    Father=46,XY.ish t(2q;7q)(210E14-,B37c1+,210E14+).,Child=46,XX.ish der t(2q;7q)pat(210E14-,B37c1+).
    Most products were found to be abnormal. Pregnancy did not occur.
    The 4 1/2 yo girl had severe MR and minor anomalies.
    46,XX,der(2)t(2;17)(2pter->2q37::17q25->17qter)pat. Detection of this cryptic translocation was possible only after the use of region specific telomere FISH probes.
    Paternal family history of multiple children with severe devlopmental delay, minor anomalies, and early death.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;17q+
  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    46,XY,-18,+der(18),t(2;18)(q37.2 or 3;q22.3)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q-,2q+
    Negative band
  • Same entry as in 01q210,02p210 (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(2;6)(q37;q21); t(2;9)(q37;q22); t(2;16)(q37;q23); t(2;18)(q37;p21).
    Aberration: Reciprocal translocation
    Negative band
  • Bucknall W E, Aronson M M, Greene A E, Coriell L L: Repository identification No. GM-846. Cytogenet. Cell Genet. 21:112, 1978,1978. [PubMed: 565692]
    18 year old suffering from secondary amenorrhea that resolved spontaneously.&"46,XX,t(2;8)(q37;q13)."&"46,XX,t(2;8)(2pter -> 2q37::8q13 -> 8qter;8pter -> 8q13::2q37 -> 2qter)."
    The above patient''s mother with a history of multiple spontaneous abortions and has the same translocation.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Burd L, Martsolf J T, Kerbeshian J, Jalal S M: Partial 6p trisomy associated with infantile autism. Clin. Genet. 33:356-359, 1988. [PubMed: 3378366]
    46,XY,-2,+der(2),t(2;6)(q37;p23)mat.&"46,XX,t(2;6)(q37;p23)."
    Major features, besides low birth weight, mental and developmental retardation, included prominent forehead, flat occiput, multiple ocular abnormalities, low-set ears, prominent nasal bridge, long philtrum, and small pointed mouth.
    It is suggested that karyotypic analysis be considered for autistic children.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
    Index Terms: Autis(m)(tic)
    Negative band
  • Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois M C, Philippe A, Vekemans M, Romana S P.: Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Europ. J. Med. Genet. DOI=10.1016/j.ejmh.2005.07.001; 49: 255-263, 2005 and 2006. [PubMed: 16762827]
    Patients 1 (BC), 2 (PA), 3 (RA), 4 (CC), and 5 (TS):
    Patient 1=del(2)(q37.1->qter) at least 10 Mb,,Patient 2=del(q37.2->qter) about 6.2 Mb.,Patients 3 and 4=del(2)(q37.2->qter) about 7 Mb.,Patient 5=del(q37.3).
    Aberration: ID,TD
    Chromosomal Aneuploidy: 2q-
    Index Terms: Brachydactyly
  • Chassaing N, De Mas P, Taiber M, Vincent M C, Julia S, Bourrouillou G, Calvas P, Bieth E.: Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. AJMG DOI=10.1002/ajmg.a.30199; 128A:410-413, 2004. [PubMed: 15264288]
    46,XX.ish del(2)(q37)(D2S90-)de novo
    Patient was 18 years old and was being evaluated for assessment of MR.
    Aberration: Interstitial deletion
    MIM#: 600430
    Chromosomal Aneuploidy: 2q-
    Index Terms: Albright hereditary osteodystrophy-like (AHO-like) syndrome
  • Chen C-P, Liu F-F, Jan S-W, Lin C-L, Lan C-C.: Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. Clin. Genet. 50:321-326, 1996. [PubMed: 9007318]
    46,XX,der(2)t(2;3)(q37;p21)pat
    Fetus with premaxillary agenesis.
    46,XY,der(2)t(2;3)(q37;p21)pat.
    Fetus with cyclopia.
    Aberration: Reciprocal translocation
    Index Terms: Holoprosencephaly
    No band
  • Crandall F, 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. 188.
    46,XY,t(2;4)(q37;q21)pat.
    Aberration: Reciprocal translocation
    Negative band
  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.
    46,XX,del(2)(q37)de novo.
    46,XX,der(7)t(2;7)(q37;q36)pat.
    The patient was 3 years old with severe MR. The phenotype included microcephaly, hypotonia, hypertelorism, upslanting palpebral fissures, left micropthalmos, and right anopthalmos.
    Size of 2q+ is estimated to be 27.0-33.0cM in size.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q+;7q-
  • Duca D, Bene M, Ioan D M, Maximilian C: Familial partial trisomy: 6q25 to 6qter. J. Genet. Hum. 28:31-37, 1980. [PubMed: 7400783]
    Mother, M.M. was 31 years old.
    46,XX,t(2;6)(2pter -> 2q37::6q25 -> 6qter;6pter -> 6q25::2q37 -> 2qter).
    Patient M.N., was delivered at 7 mos and weighed 2050g., was dysmorphic and malformed.
    46,XX,-2,+der(2)t(2;6)(q37;q25)mat.
    Aberration: Simple translocation
    Negative band
  • Engelen J J M, Marcelis C, Herbergs J, weber J, Alofs M, Albrechts J C M, Hamers A J H.: Mosaic telomeric (2;14) association in a child with motor delay. AJMG 92:318-321, 2000. [PubMed: 10861660]
    mos46,XX,tas(2;14)(q37;p11)[90]/46,XX,tas(2;14)(q37;q32)[10].
    The 6 year old patient had hyperextensible joints.
    Index Terms: Telomeric association
  • Engel R, Ritterbach J, Schwabe D, Lampert F: "Chromosome translocation (2;13)(q37;q14) in a disseminated alveolar rhabdomyosarcoma." Europ. J. Ped. 148:69-71, 1988. [PubMed: 3197735]
    t(2;13)(q37;q14).
    Aberration: Reciprocal translocation
    MIM#: 268210
    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 3 in this report.
    46,XX,t(2;3)(q37;q27).&"46,XY,rec(2),dup q,t(2;3)(q37;q27)mat."&See comments under 03p250 entry of Fineman et al, 1978.
    Aberration: Simple translocation
    Negative band
  • Fryns J P, van Eygen M, Logghe N, van den Berghe H: Partial trisomy for the long arm of chromosome 3(q21 to qter)+ in a newborn with minor physical stigmata. Hum. Genet. 40:333-339, 1978. [PubMed: 631852]
    Case S.N. in this report. Karyotypes of parents were normal.
    46,XY,t(2;3)(q37;q2).&"46,XY,t(2;3)(2pter -> 2q37::3q2 -> 3qter:?)(3pter -> 3q2:?)."
    Aberration: Simple translocation
    Negative band
  • George D L, Francke U: Gene dose effect: Regional mapping of human nucleoside phosphorylase on chromosome 14. Science 194:851-852, 1976. [PubMed: 824731]
    46,XY,t(2;14)(q37;q24).&"46,XY,t(2;14)(2pter -> 2q37::14q24 -> 14qter;14pter -> 14q24::2q37 -> 2qter)."
    Case S.C., a five-year-old with developmental retardation.
    47,XY,-2,-14,+der(2),+der(14),+der(14)t(2;14)(q37;q24)pat.&This probably is the same karyotype reported by Reiss et al (1972) and recorded under 02q000.
    Aberration: Reciprocal translocation
    Index Terms: Developmental retardation
    Negative band
  • Gilgenkrantz S, Walbaum R, Mauuary G, Pierson M: "Translocation 46,XY,t(2;5)(q37;q14) and mental retardation. Clinical and cytogenetic study." J. Genet. Hum. 24:27-37, 1976. [PubMed: 58967]
    Patient Christian R. (130567) in this report.
    46,XY,t(2;5)(q37;q14).
    Aberration: Simple translocation
    Negative band
  • Gorski J L, Cox B A, Kyine M, Uhlmann W, Glover T W: Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). AJMG 32:350-352, 1989. [PubMed: 2729355]
    J.G. was 21 months old.
    46,XY,del(2)(pter -> q37:)de novo.
    Characteristics are infantile hypotonia, developmental delay, frontal bossing, and micrognathia.
    It is suggested that mental deficiency and central nervous system malformations may be the sole manifestations of autosomal aneuploidy.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • Grosse K P, Schwanitz G: Diagnostik und genetische Beratung bei reziproken chromosomen-translokationen dargestellt am Beispiel einer familiaren A/E translokation. Mschr. Kinderheilkd. 121:108-113, 1973. [PubMed: 4696922]
    46,XX,t(2;18)(q3;q2).&"46,XY,t(2;18)(2pter -> 2q3::18q2 -> 18qter;18pter -> 18q2::2q3 -> 2qter)."&"46,XX,der(2)der(18)t(2;18)(q3q2)pat."&"46,XX,-2,+der(2)t(2;18)(q3;q2)mat."
    Individual III-10 had two more children who were monitored by amniocentesis. One normal 46,XX, and the other a balanced translocation carrier.
    Aberration: Simple translocation
    Negative band
  • Helias-Rodzewicz Z, Bocian E, Stankiewicz P, Obersztyn E, Kostyk E, Jakubow-Durska K, Kutkowska-Kazmierczak A, Mazurczak T.: Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies. J. Med. Genet. 39:e53-e53, 2002. [PMC free article: PMC1735238] [PubMed: 12205123]
    Case 2 (III-2) was referred because of dysmorphic features and psychomotor delay.
    Proband=46,XY,der(2)t(2;7)(q37;q36)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;7q+
  • Hulley B J, Hummel M, Wenger S L.: Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere fish probes. AJMG DOI=10.1002/ajmg,10925, 2002. [PubMed: 12599198]
    17 patients with MR or developmental delay and dysmorphic facial features were screened. 13 cases were studied with FISH telomere probes.
    del(2)(q37)
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
  • Iwarsson E, Malmgren H, Inzunza J, Ahrlund-Richter L, Sjoblom P, Rosenlund B, Fridstrom M, Hovatta O, Nordenskjold M, Blennow E.: Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenat. Diag. 20:1038-1047, 2000. [PubMed: 11180227]
    Patient PGD 16: He had male factor infertility.
    46,XY,t(2;14)(q37;q24).
    No pregnancy.
    No band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 6=46,XX,del(2)(q37->qter)
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    No band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    46,XY,t(2;14)(q37;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Laca Z, Kalicanin P: A case of partial trisomy 10q. J. Ment. Def. Res. 18:285-291, 1974. [PubMed: 4465466]
    46,XY,t(10;2)(q24;q37).&"46,XY,der(20)der(10)t(10;2)(q24;q37)pat."
    Patient B. J.,000069, in this report.
    46,XY,-2,+der(2)t(10;2)(q24;q37)pat.
    Aberration: Simple translocation
    Negative band
  • Lurie I W, Lazjuk G I, Usova Y I, Gurevich D B: Partial trisomy 11q as the result of sporadic translocation. Hum. Genet. 51:63-66, 1979. [PubMed: 500093]
    Patient, 131176, 4 1/2 months old, was mentally retarded and had multiple abnormalities. Parents had normal karyotypes.
    46,XX,t(2;11)(q37;q13).&"46,XX,t(2;11)(2pter -> 2q37::11q13 -> 11qter)."
    Aberration: Simple translocation
    Negative band
  • Lyberatou-Moraitou E, Grigori-Kostaraki P, Retzepopoulou Z, Kosmaidou-Aravidou Z: Cytogenetics of recurrent abortions. Clin. Genet. 23:294-297, 1983. [PubMed: 6851220]
    46,XX,t(2;10)(q37;p11).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Mann J, Wcislo 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. 264.
    46,XY,t(2;14)(q37;q24)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Muneer R S, Donaldson D L, Rennert O M: Complex balanced translocation of chromosomes 2, 3, and 13. Hum. Genet. 59:182-184, 1981. [PubMed: 7327579]
    46,XX,t(2;3;13)(q37;p11;q14).&"46,XX,-2,+der(2)t(2;3;13)(q37;p11;q14)mat."
    Aberration: Complex translocation
    Negative band
  • 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 C.M.G. in this report.
    t(2;13)(q37;q14 or q21).
    Sibship P.M. in this report.
    t(2;8)(q37;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Neu R L, Miller 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. 236
    46,XY,t(2;10)(q37;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 3:
    46,XX,-2,+der(2)t(2;17)(qter;q23)de novo.
    The newborn patient with MCA was evaluated. She is trisomic for segment 17q23 to 17qter.
    Aberration: Simple translocation
    Index Terms: Telomer ... sequences, interstitial
    Negative band
  • Roberts S H, Mattina T, Laurence K M, Sorge G, Pavone L: Partial trisomy 12q: Report of a case and review. J. Med. Genet. 18:470-473, 1981. [PMC free article: PMC1048798] [PubMed: 7334509]
    46,XY,t(2;12)(q37:q241).&"46,XY,-2,+der(2)t(2;12)(2pter -> 2q37::12q241 -> 12qter)pat."
    Aberration: Simple translocation
    Negative band
  • Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Case 7=del(2q)de novo, 12 cM(D2S336+;D2S338-).
    The patient, 5 year old at the time of initial karyotyping and 7 years old at the telomere test, had severe MR, short stature, brachymetaphalangism, cone shaped epiphyses.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    No band
  • Schmid M, Wolf J, Nestler H, Krone W: Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation. Hum. Genet. 49:283-289, 1979. [PubMed: 478537]
    46,XX,t(2;7)(q37;q32).&"46,XX,t(2;7)(2pter -> 2q37::7q32 -> 7qter;7pter -> 7q32::2q37 -> 2qter)."&"46,XY,der(2)der(7)t(2;7)(q37;q32)mat."&"46,XY,-2,+der(2)t(2;7)(q37;q32)pat."&The patient, a 5 year old, was severely retarded with somatic and CNS anomalies. The features common to 7q trisomy are: low birth weight, growth and mental retardation, high forehead with broadly protruding ossa parietalia, wide and flattened nasal bone.
    Aberration: Reciprocal translocation
    Index Terms: Central nervous system ... disorder,Forehead ... prominent
    Negative band
  • Schonberg S, Golbus M 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. 263.
    46,XY,t(2;14)(q37;q24)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Speleman F, Callens B, Logghe K, Van Roy N, Horsley S W, Jauch A, Verschraegen-Spae M R, Leroy J G.: Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-qter; molecular cytogenetic analysis and clinical phenotype in two generations. AJMG 93:349-354, 2000. [PubMed: 10951456]
    Proband, patient S.V.=46,XX,der(2)t(2;7)(q37;q35)pat.,Paternal uncle, patient D.V.=46,XY,der(2)t(2;7)mat.
    Phenotypic findings include large head with frontal bossing, low-set ears of normal shape, small nose and low nasal bridge, feeding difficulty in infancy and severe neurodevelopmental delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+
    No 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;q25)pat.
    Patient 6.
    46,XX,t(2;3)(q37;q25).&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
  • Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B: Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk. Clin. Genet. 42:178-185, 1992. [PubMed: 1424241]
    Case 1.
    46,XX,t(2;8)(qter;q2300).&"46,XX,-2,+der(2)t(2;8)mat."
    There were 3 miscarriages and one stillbirth.,The patient had coarctation of the aorta with persistent ductus Botalli, mitral stenosis and died at the age of 6 months.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8q+
    Negative band
  • Stratton R F, Tolworthy J A, Young R S: Deletion (2)(q37). AJMG 51:153-155, 1994. [PubMed: 8092193]
    46,XX,del(2)(q37)de novo.
    The 2 month old patient had MCA.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • Van Allen M I, Siegel-Bartelt J, Feigenbaum A, Teshima I E: Craniosynostosis associated with partial duplication of 15q and deletion of 2q. AJMG 43:688-692, 1992. [PubMed: 1621758]
    46,XY,t(2;15)(q37;q26)-father.&"46,XY,-2,+der(2)t(2;15)(2pter -> 2q37::15q26 -> 15qter)pat-propositus."
    The infant with MCA, including craniosynostosis, died 7 months after birth.
    It is suggested that the critical segment for craniosynostosis might be in the region 15q25 to qter.
    Aberration: Reciprocal translocation
    Index Terms: Craniosynostosis
    Negative band
  • Wang T H, Johnston K, Hsieh C L, Dennery P A: Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). AJMG 49:399-401, 1994. [PubMed: 8160733]
    Patient L:
    46,XY,del(2)(q37)de novo.
    The newborn patient died few days after birth (possibly 4) and had MCA including craniofacial, syndactyly, horseshoe kidney, and cardiac anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Horseshoe kidney
    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(2;17)(q37;q12).
    Aberration: Reciprocal translocation
    Negative band
  • 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.
    46,XY,-2,+der(2)t(2;6)(q37;q21)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;6q+
    Negative band
  • Yakut S, Berker-Karauzum, Simsek M, Zorlu G, Trak B, Luleci G.: Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages. Clin. Genet. 61:26-31, 2002. [PubMed: 11903351]
    Case 3F=46,XX,ish t(20p;?Dp)(tsp)+,2q-polymorphism.,Case 4F=46,XX,2q-.
    Lack of a telomere signal is classified as a polymorphism.
    Aberration: Marker chromosome
  • Young S R, 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. 189.
    46,XX,t(2;4)(q37;q31)mat.
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105609
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...