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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-.

Cover of Chromosomal Variation in Man

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

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02q373

2q37.3
  • Abe K, Deng H S, Harada N, Yoshiura K I, Oh-Hira T, Niikawa N: Monosomy for 21pter-q21: case report and assignment of a DNA clone (Fr8-77) to the deleted segment. Jpn. J. Hum. Genet. 35:303-310, 1990. [PubMed: 2094779]
    45,XX,-2,-21,+der(2)t(2;21)(q37.3;q22.1).
    The 4-month old patient with multiple congenital anomalies was found to be monosomic for a segment of 21. Origin of the anomaly was paternal.
    The DNA clone Fr8-77, D21S82 was assigned to pter-q21.
    Aberration: Simple translocation
    Negative band
  • Al Gazali L I, Quaife R: Two sibs with unbalanced translocations in the Waardenburg gene region. J. Med. Genet. 30:607-609, 1993. [PMC free article: PMC1016465] [PubMed: 8411038]
    Father:46,XY,t(2;11)(q37.3;q23.3).&"46,XY,-11,+der(11)t(2;11)(q37.3;q23.3)pat."&"46,XX,-2,+der(2)t(2;11)(q37.3;p23.3)pat."
    Aberration: Reciprocal translocation
    MIM#: 193500
    Chromosomal Aneuploidy: 2q-,2q+
    Index Terms: Waardenburg syndrome
    Negative band
  • Batstone P J, Simpson S, Bonthron D T, Keng W T, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D.: Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalnaced segregation of a 2;11 translocation. AJMG DOI=10.1002/ajmg.a.10204; 118A:241-246, 2003. [PubMed: 12673654]
    This reports a seven generation family with the translocation.
    Proband V.8 and six others, IV.2, V.1, V.10, VI.6, VI.9, and VI.12=46,XX/XY,t(2;11)(q37.3;p15.5).,Patients VI.2, VI.5, VI.11, VI.13, VI.15, and VII.2=46,XX/XY,der(2)t(2;11)(q37.3;p15.5).,Patients VI.3 and VI.10=46,XX/XY,der(11)t(2;11)(q37.3;p15.5).
    Detailed descriptions are provided of patients with the monosomy and trisomy of 2q37.3 band.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q-;2q+
    Index Terms: Albright's Hereditary osteodystrophy-like phenotype (AHO-like).
  • Bijlsma E K, Aalfs C M, Sluijter S, Oude Luttikhuis M E M, Trembath R C, Hoovers J M N, Hennekam R C M.: Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J. Med. Genet. 36:604-609, 1999. [PMC free article: PMC1762967] [PubMed: 10465110]
    46,XX and XY,t(2;8)(q37.3;q24.3).
    Individuals V-3, V-7, V-10, V-19, and V-21 showed a terminal deletion of 2q. They all had Albright hereditary osteodystrophy-like syndrome and MR.
    Aberration: Reciprocal translocation
    MIM#: 103580
    Index Terms: Albright hereditary osteodystrophy-like phenotype
  • Borg I, Stout K, Sargan D R, Morgan D, Willatt L, Kalscheuer V, Tommerup N, Ropers H H, Ferguson-Smtih M A.: Breakpoint mapping of an apparently balanced 2;8 translocation reveals a cryptic deletion on 2q in a child with autism. AJHG 67 (Suppl. 2):159, 2000.
    46,XY,t(2;8)(q36;q21)de novo
    The child had delayed devlopmental milestones and marked impairment in communication and social interaction.
    One YAC clone region was found to be deleted, by FISH, on 2q.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q-
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
    No band
  • 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;5)(q373;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Chevalier-Porst F, Rolland M-O, Cochat P, Bozon D.: Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. AJMG DOI=10.1002/ajmg.a.30375; 132A:80-83, 2004 and 2005. [PubMed: 15580638]
    A 16 year old patient (Z) of Croatian ancestry is described.
    The patient has normal physical and intellectual development. He had complete liver AGT deficiency and he experienced successful liver and kidney transplantation.
    It was shown that the patient has PH1 because he inherited two copies of maternal telomeric end of chromosome 2 which carried a frameshift mutation in the AGXT gene.
    Aberration: Uniparental disomy
    Chromosomal Aneuploidy: 2q maternal isodisomy
    Index Terms: Primary hyperoxaluria (PH1),AGXT
  • Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D.: Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances. AJMG DOI=10.1002/ajmg.a.10048, 2002. [PubMed: 12548741]
    Case 2=46,XX,del(2q-);dup(2p)subtelomeric regions.,This rearrangement was of paternal origin. The 2q deletion breakpoint was between D2S2344 and D2S2202.
    Aberration: Direct insertions within a chromosome
    Chromosomal Aneuploidy: 2q-;2p+
    Index Terms: Intrachromosomal transpositions of subtelomeres
  • De Brasi D, Perone L, Di Micco P, Andria G, Sebastio G, Iaccarino E, Aliberti F.: Cloverleaf skull anomaly and de novo trisomy 4p. J. Med. Genet. 36:422-424, 1999. [PMC free article: PMC1734360] [PubMed: 10353793]
    46,XY,der(2)t(2;4)(2pter->2q37.3::4p15.1->4pter)de novo
    The patient was 12 days old with MCA and died at 6 months of age due to cardiac and respiratory failure.
    PCR on DNA from a lymphoblastoid cell line of the patient and the parents showed that the patient was monosomic for D2S125 (GDB ID:187994) and trisomic for D4S126.
    Aberration: Simple translocation
    MIM#: 148800
    Chromosomal Aneuploidy: 2q-;4p+
    Index Terms: Kleeblattschaedel cloverleaf skull deformity
  • de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    De Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.

    Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois M-C, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L.: Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J. Med. Genet. 39:266-270, 2002. [PMC free article: PMC1735076] [PubMed: 11950856]
    46,XX,del(2)(q37.3)de novo, 2-9.2 Mb, paternal origin.,46,XY,del(2)(q37.3)de novo, 2-9.2 Mb, maternal origin.
    Facial dysmorphism and other minor anomalies were also present.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
  • Emberger W, Petek E, Plecko-Startinig B, Kroisel P M, Zierler H, Wagner K.: A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity. J. Med. Genet. 37:892-896, 2000. [PMC free article: PMC1734473] [PubMed: 11185078]
    46,XY,t(2;3;10)(2pter->2q37.3::10q25.2->10qter;3qter->3p22.3::?2pter;10pter->10q25.2::3p22.3->3pter)de novo.
    The proband was 2 1/2 years old with severe psychomotor retardation.
    Aberration: Complex translocation
    Index Terms: Microcephaly,spasticity early onset
    No band
  • Ghaffari S R, Boyd E, Tolmie J L, Crow Y J, Trainer A H, Connor J M.: A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J. Med. Genet. 35:225-233, 1998. [PMC free article: PMC1051247] [PubMed: 9541108]
    Family 1:
    Patient JK=46,XY,der(2)t(2;17)(q37.3;q25.3)pat.,Father=46,XY,der t(2;17)pat.
    The patient was referred because of craniofacial dysmorphism, tetralogy of Fallot, laryngomalacia, and inguinal hernia. He died at the age of 6 months.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;17q+
    No band
  • Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L.: Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Europ. J. Hum. Genet. 9:881-886, 2001. [PubMed: 11840188]
    Index case (IV-1)=46,XY,der(2)t(2;16)(q37.3;q24.3)mat.
    The patient was 15 months old with microcephaly, bitemporal constriction, a flat occiput, among other MCA.
    The breakpoint on chromosome 2q37 was between y952E1 and y746H1 and on 16q between bA 309g16 and bA 533d19.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;16q+
  • Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G., Larizza L.: Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). AJMG 122A: 261-265, 2003. [PubMed: 12966529]
    46,XY,der(2)t(2;6)(q37.3;q26)pat.,Father=46,XY,t(2;6)(q37.3;q26);,Sister=XX,der t(2;6)(q37.3;q26)pat.
    The proband was referred because of MR, obesity, brachydactyly, and short stature.
    Aberration: Reciprocal translocation
    MIM#: 600430
    Chromosomal Aneuploidy: 2q-; 6q+
    Index Terms: Albright hereditary osteodystrophy-like syndrome (AHO-like phenotype).
  • Giorgi P L, Tarantino E, Formica A, Cipriani P, Dallapiccola B: "Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)." Acta Genet. Med. Gemellol. 27:75-79, 1978. [PubMed: 751384]
    Case F. G., and 5-1/2 year-old with multiple congenital anomalies is reported. It is suggested that partial trisomy 8q is a nosologically distinct syndrome.
    Aberration: Simple translocation
    Negative band
  • Joly G, Frebourg T, Drouin-Garraud V, Parain D, Le Guern E, Moirot H, Rives N, Brice A, Mace B.: Partial 2qter trisomy and partial 9pter monosomy associated with Charcot-Marie-Tooth disease Type 2 (CMT2). GeneScreen 1:173-174;DOI=10.1046/j.1466-9218.2001.00013.x, 2001.
    46,XX,9qh+,add(9)(p24.1).ish der(9)t(2;9)(q37.3;p24.1)(Chromosome 2 probe 2052f6 gave three signals +++, and chromosome 9 probe 953A7 only one +).
    A 12 year old patient with moderate MR and a peripheral neuropathy.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q+;9p-
    Index Terms: Charcot-Marie-Tooth disease Type 2 (CMT2)
  • Joyce C A, Dennis N R, Cooper S, Browne C E.: Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum. Genet. DOI=10.1007/s004390100588, 2001. [PubMed: 11702226]
    Case S2=46,XX,add(2)(q37).ish der(2)t(2;14)(q37.3;p11)pat
    Case ascertained because of developmental delay, long hands and feet.
    There is a typographical error in the karyotypic description of this case and I hope the above is accurate.
    Case S4=46,XY,der(2)t(2;7)(q37.2;q36.3)mat.
    The patient had MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;
  • Lurie I W.: Distal trisomy 10q and limb defects. Ann. Genet. DOI=10.1016/S0003-3995(02)01131-0; 45:127-129, 2002. [PubMed: 12381442]
    Wiktor A, Feldman G L, Bawle E V, Czarnecki P, Conrad J V, Van Dyke D L.: Deletion of 2q37 and duplication of 10q24: two cases in the same family and review of the literature. Ann. Genet. 44:129-134, 2001. [PubMed: 11694224]
    Patient 1, LM 18 years old=46,XY,der(2)t(2;10)(q37.3;q24.1)mat.,Patient 2, TC was 12 months=46,XX,der(2)t(2;10)(q37.3;q24.1)pat.,Father of patient 2=46,XY,der t(2;10)(q37.3;q24.1)mat.,The two mothers ie (of patient1 and of the father of patent 2) are sisters.
    The patients had unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;10q+
  • Maserati E, Verri A, Seghezzi L, Tupler R, Federico A, Tiepolo L, Maraschio P.: Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement. Ann. Genet. 42:210-214, 1999. [PubMed: 10674160]
    Patient G.M. born in 1956.
    46,XY,t(2;5;16;17)der(2)(2pter->2q37.3::17q25.3->17qter),der(5),(5pter->5q21.2::16q22.3->16q13::5q22->5q31.1::16q22.3->16qter),der(16)(16pter->16q13::5q21.2->5q22::5q31.1->5q33.3::2q37.3->,2qter),der(17)(17pter->17q25.3::5q33.3->5qter).
    The patient had cerebellar hypoplasia, mild MR, skeletal abnormalities, and ataxia.
    The father is deceased but the mother and a sister had normal karyotypes. Gene disruption, positional effect variegation, and sub-microscopic deletions are all possible causes for the abnormal phenotype.
    Aberration: Complex translocation
    Index Terms: Cerebellar dysgenesis
  • Moog U, Arens Y H J M, van Lent-Albrechts J C M, Huijts P E A, Smeets E E J, Schrander-Stumpel C T R M, Engelen J J M.: Subtelomeric chromosome aberrations: still a lot to learn. Clin. Genet. 68:397-407, 2005. [PubMed: 16207207]
    Patient 3=46,XY.ish del(2)(q37.3)(1011017-,3K23-,556H17+).,Patient 4=46,XY.ish del(2)(q37.3)(1011017-,556H17+).
    Patient 3 was 4 years old with mild to modertae developmental delay, truncal obesity, and brachymesophalangism.,Patient 4 was 3 years old with severe developmental delay, hypotonia, oculomotor dyspraxia, microcephaly, hypogenitalism.
    Aberration: TD,ID
    Chromosomal Aneuploidy: 2q-
  • Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Digilio M C, Mingarelli R, Dallapiccola B.: High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism. Clin. Genet. 66:30-38, 2004. [PubMed: 15200505]
    Patient 6=46,XY,del(2)(q37.3)de novo, maternal origin.,Patient 12=46,XX,der(2)t(2;6)(q27.3;q27)de novo, maternal origin.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 2q-;6q+
  • Phelan M C, Rogers R C, Clarkson K B, Bowyer F P, Levine M A, Estabrooks L L, Severson M C, Dobyns W B.: Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. AJMG 58:1-7, 1995. [PubMed: 7573148]
    Patient 3, J.L.A.:
    46,XX,del(2)(pter->q37.3:)de novo.
    The patoent was referred ro rule out Ullrich-Turner syndrome at age 6 1/2 years.
    Aberration: Terminal deletion
    MIM#: 103580
    Chromosomal Aneuploidy: 2q-
    Index Terms: Albright Hereditary osteodystrophy
    Negative band
  • Reddy K S, Flannery D, Farrer R J.: Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. AJMG 84:460-468, 1999. [PubMed: 10360400]
    Data on 34 cases, reported earlier in the literature, have been reviewed. The authors suggest a molecular cytogenetic evaluation in patients with abnormal situs viscerum.
    Patient 2 was 44 years old and evaluated because of an isolated psychotic event.
    46,XY,del(2)(q37.3)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Albright hereditary osteodystrophy,Abnormal situs viscerum
  • Reddy K S, Sulcova V.: The mobile nature of acrocentric elements illustrated by three unusual chromosome variants. Hum. Genet. 102:653-662, 1998. [PubMed: 9703427]
    Case C:
    46,XY,psu dic(2;?).ish psu dic(2;?)(q37.3;?)(alpha-sx2, acrocentric beta-sx2, telx2subtelx2).
    The 46 year old was studied for infertility.
    Aberration: ST,DI,MA
    Chromosomal Aneuploidy: 2q-
  • Shrimpton A E, Braddock B R, Thomson L L, Stein C K, Hoo J J.: Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin. Genet. 66:537-544, 2004. [PubMed: 15521982]
    Patient 1 (T.S.)
    46,XY,del(2)(q37.3q37.3)de novo.
    Patient was 20 years old with the AHO phenotype.
    Deletion is distal to D2S336, involves a region of between 6.1 and 7.5 Mb.
    Patient 2 (R.V.W.) was 17 years old.
    46,XY.ish del(2)(GPR-).
    The breakpoint is between D2S2338 and D2S140, within the GT2230 and CA8740 interval; and a region of between 2.7 and 3.2 Mb..
    Patient 3 (L.L.):
    46,XX.ish del(2)(q37.3)de novo
    The deletion is of paternal origin and involves a region between 3.4 and 4.4 Mb. Breakpoint mapped to within the GT1000 and GT1648 interval.
    Aberration: ID,TD
    MIM#: 600430
    Chromosomal Aneuploidy: 2q-
    Index Terms: Albright hereditary osteodystrophy-like phenotype (AHO),GPR35
  • Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
    Patient L.S. was 4 years old with multiple anomalies, dysmorphic face, and epilepsy.
    46,XY,der(2)t(2;12)(2pter -> 2q37.3::12q24.13 -> 12qter)pat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 12q+
    Index Terms: Epilepsy,Facial dysmorphism
    Negative band
  • Veltman J A, Schoenmakers E F P M, Eussen B H, Janssen I, Merkx G, van Cleef B, van Ravenswaaij C M, Brunner H G, Smeets D, van Kessel A G.: High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. AJHG 70:1269-1276, 2002. [PMC free article: PMC447601] [PubMed: 11951177]
    Case 12=46,XY,der(2)t(2;?)(q37.3;?)
    Case ascertained because of MR.
    Satellited addition on 2q.
    Aberration: Satellited chromosome
    Chromosomal Aneuploidy: 2q-
    Index Terms: Satellite on 2q
  • Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolor banding and region specific probes. J. Med. Genet. 39:434-439, 2002. [PMC free article: PMC1735147] [PubMed: 12070255]
    Case 1:
    GTG=46,XY,der(2)t(2;8)(q37;q22).,MCB=46,XY,der(2)t(2;8)(q37.3;q23.3)mat.
    The patient had severe primary MR, MCA including craniofacial dysmorphism, progressive kyphoskoliosis, and muscular atrophy.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;8q+
    Index Terms: Multicolor banding (MCB),Kyphoskoliosis progressive
  • Wiktor A, Feldman G L, Bawle E, Czarnecki P, Conard J, Van Dyke D L.: Deletion of 2q37 and duplication of 10q24: report of two cases in the same family and literature review. AJHG 67 (Suppl. 2):162, 2000.
    46,XX and XY,t(2;10)(q37.3;q24.1).,Patients=46,XY,der(2)t(2;10)mat.
    A multigeneration family was worked up. The patients have dysmorphic features. Patient 1 was 18 years old with severe MR, and patient 2 was 12 months old.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;10q+
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105712
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