06p250

6p25

Publication Details

  • Anderlid B-M, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, Nordenskjold M.: Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Europ. J. Hum. Genet. 11:89-92, 2003. [PubMed: 12529712]
    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]
    46,XX.ish del(6)(p25)de novo.
    The patient presented with typical facial dysmorphic fetures, hearing impairment, malformation of the anterior eye segment, an ASD and sever language impairment.
    The terminal deletion is estimated to be 2.1 Mb and forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders is deleted. The breakpoint was located between the contiguous clones 279I9 (deleted) and 82M9 (not deleted).
    Aberration: Terminal deletion
    MIM#: 601090
    Chromosomal Aneuploidy: 6p-
    Index Terms: FOXC1

  • Barber J C K.: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J. Med. Genet. 42:609-629, 2005. [PMC free article: PMC1736115] [PubMed: 16061560]
    Barber has done an excellent review on this topic.

    Borgaonkar D S, Bias W B: HL-A loci and chromosome 6. BD-OAS X(No. 3):67-68, 1974.
    Borgaonkar D S, Bias W B, Chase G A, Sadasivan G, Herr H M, Golomb H M, Bahr G F, Kunkel L M: Identification of a C6/G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down''s syndrome, with possible assignment of Gm locus. Clin. Genet. 4:53-57, 1973. [PubMed: 4120631]
    Borgaonkar D S, Greene A E, Coriell L L: "A (6;21) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-144." Cytogenet. Cell Genet. 13:403-405, 1974. [PubMed: 4139000]
    45,XX,-6,-21,+t(6;21)(p25;q11).&"45,XX,-6,-21,+t(6;21)(6qter -> 6p25::21q11 -> 21qter)."&"46,XX,-6,+der(6)t(6;21)(p25;q11)mat."
    45,XY,-6,-21,+der(6)t(6;21)(p25;q11)mat.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 18:
    t(6;9)(p25;p22)pat.
    Family ascertained because of a previous infant with MCA.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band

  • Batanian J, Brun B, Chandley A C, Croquette M F, Delafontaine D, Gabriel-Robez O, Guichaoua M R, Hargreave T B, Hulten M A, Jaafar H, Johannisson R, Lohrs U, Luciani J M, McBeath S, Noel B, Passarge E, Perdigo A de, Quack B, Rigot J M, Rumpler Y, Saadallah N, Schwinger E, vom Ende U, Wolff H.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. - Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39:17-25, 1996.
    21 autosomal translocation carriers were studied, some previously reported by various authors.
    46,XY,t(6;17)(p25;q31)
    10% relationship with XY. Spermatogenesis roughly normal.
    There is no band 17q31 in the ISCN (1995).
    Aberration: Reciprocal translocation
    Index Terms: Spermatocyte
    No band

  • Batanian J R, Grange D K, Fleming R, Gadre B, Wetzel J.: Two unbalanced translocations involving a common 6p25 region in two XY female patients. J. Med. Genet. 59:52-57, 2001. [PubMed: 11168026]
    Case 1: 46,XY,der(6)t(X;6)(p21.2;p25)de novo.,Case 2: 46,XY,der(13)t(6;13)(p25;q33)de novo.
    The first patient died at birth but had no dysmorphic features. The second patient, a 15 year old, was being evaluated for ambiguous genitalia and MCA.
    Aberration: Simple translocation
    No band

  • Bedoyan J K, Lesperance M M, Ackley T, Iyer R K, Innis J W, Misra V K.: A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. AJMG Part A: 155: 154-163, 2011. [PMC free article: PMC4533830] [PubMed: 21204225]
    46,XX,del(6)(108, 083-2,669,844;hg18), 2.56Mb.
    The 11 1/2 year old had a history of myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 6p-
    Index Terms: Multiple epiphyseal dysplasia

  • Bernstein R, Dawson B, Morcom G, Wagner J, Jenkins T: Two unrelated children with distal long arm deletion of chromosome 7: Clinical features, cytogenetic and gene marker studies. Clin. Genet. 17:228-237, 1980. [PubMed: 6928813]
    Patient FV in this report.
    46,XX,del(7)(q32).
    Patient MG in this report.
    46,XX,t(6;7)(p25;q32).&"46,XY,der(7)t(6;7)(p25;q32)mat."
    Aberration: Simple translocation
    Negative band

  • Same entry as in 04p140,06p210 (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(6;15)(p25;q22); inv(6)(p25q13).
    Aberration: Reciprocal translocation
    Negative band

  • Caluseriu O, Mirza G, Ragoussis J, Chou E W C, MacCrimmon D, Bassett A S.: Schizophrenia in an adult with 6p25 deletion syndrome. AJMG Part A DOI=10.1002/ajmg.a.31222, 2006. [PMC free article: PMC3133765] [PubMed: 16642507]
    46,XX,del(6)(p25-pter), a 6.7 Mb deletion.
    The 36 year-old patient with schizophrenia, mild MR, progressive hearing deficits, and characteristic facial features is presented.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: Schizophrenia

  • Cruz-Marin F, Gilgenkrantz S, Gregoire M J, Beley G, Pierson M: Phenotype d''un sujet porteur d''un chromosome 6 en anneau etude clinique et cytogenetique. J. Genet. Hum. 28:95-104, 1980. [PubMed: 7205202]
    Patient, 060677, in this report was 18 months old.
    46,XY,r(6)(p25q26 or q27).
    Aberration: Ring chromosome
    Negative band

  • Dawson A J, Marles S L, Harman C R, Phillips S, Menticoglou S.: Prenatal diagnosis of ring chromosome 6. Prenat. Diag. 15:872-874, 1995. [PubMed: 8559761]
    mos45,XX,-6(62%)/46,XX,r(6)(p25q27)(38%)-amniotic fluid.
    The infant with MCA died 4 months after birth.
    Prenatal diagnosis was performed because of high MSAFP and nuchal thickening/cystic mass.
    Aberration: Ring chromosome
    Negative band

  • den Hollander N S, Cohen-Overbeek T E, Heydanus R, Stewart P A, Brandenburg H, Los F L, Jahoda M G J, Wladimiroff J W: Cordocentesis for rapid karyotyping in fetuses with congenital anomalies or severe IUGR. Europ. J. Obstet. Gynecol. 53:183-187, 1994. [PubMed: 8200465]
    46,XX,-6,+der(6),t(6;14)(p25;q24.1)pat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p-,14q+
    Index Terms: Cordocentesis
    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]
    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.
    46,XY,del(6)(p25)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-;

  • Doane J F, Sajjadi H, Richardson W P.: Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea 13:454-458, 1994. [PubMed: 7995071]
    45,XX,-6,+der(6)t(6;21)(6qter->6p25::21q22.1->21qter)de novo
    The 8 month old patient had ''white eyes'' since birth as per her mother. Other features included failure to thrive, developmental delay, peculiar facies, mild hypertonia and sclerocornea. Mild rotary nystagmus was present.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p-;21q-;21p-
    Index Terms: Sclerocornea,Bilateral penetrating keratoplasty

  • Drets M E, Therman E: "Human telomeric 6;19 translocation chromosome with a tendency to break at the fusion point." Chromosoma 88:139-144, 1983. [PubMed: 6617346]
    Pallister P D, Patau K, Inhorn S L, Opitz J M: "A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t(6;19)." Clin. Genet. 5:188-195, 1974. [PubMed: 4209591]
    Patient MH (211129) in this report.
    45,XX,-6,-19,+t(6;19)(p25;p13).&"45,XX,-6,-19,+t(6;19)(6qter -> 6p25::19p13 -> 19qter)."&The centromere of chromosome No. 6 is inactivated.
    Aberration: Simple translocation
    Negative band

  • Duckett D P, Roberts S H: A new pericentric inversion of chromosome 6 in an abnormal infant. Ann. Genet. 23:117-118, 1980. [PubMed: 6967284]
    Patient was 6 months old, with delayed developmental milestones, hypotonia, abnormal facies, and short arms and legs. Parents had normal karyotypes.
    46,XX,inv(6)(p25q21).
    Aberration: Inversion pericentric
    Index Terms: Face ... anomalies,Hypotonia
    Negative band

  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XY,inv(6)(p25q21)t(4;10)(p16;q26).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Fryns J P, Kleczkowska A, Van den Berghe H: Ring chromosome 6: twenty years follow-up. Ann. Genet. 33:179, 1990. [PubMed: 2288465]
    van den Berghe H, Fryns J P, Cassiman J J, David G: Ring chromosome 6. Karyotype 46,XY,r(6)/45,XY,-6. Ann. Genet. 17:29-35, 1974. [PubMed: 4546343]
    46,XY,r(6)/45,XY,-6.&45,XY,-6(13.9%)/46,XY(25%)/46,XY,r(6)(p25q27)(61.1%).
    Patient at age of 20 years behaves as a friendly socially well-integrated boy. The general hypotrophy is much less pronounced. IQ is moderate mental retardation (IQ 50-WISCR scale).
    Aberration: Ring chromosome
    Negative band

  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    47,XY,t(6;8)(p25;p21),+mar.
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band

  • Hahm S Y E, Chitayat D, Iqbal M A, Cho S, Nitowsky H M: Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review. Clin. Genet. 31:343-348, 1987. [PubMed: 3301092]
    Both infants died after 8 weeks and 4 months respectively.
    46,XX,t(6;16)(p25;q11).&"46,XX or XY,-6,+der(6)t(6;16)(6qter -> 6p25::16q11 -> 16qter)mat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 16q+
    Negative band

  • Ivanovich J L, Watson M S, Whelan A J.: An 11-year-old boy with mosiac ring chromosome 6 and dilated aortic root. AJMG 98:182-184, 2001. [PubMed: 11223855]
    Patient R.B.
    45,XY,-6[4]/46,XY,r(6)(p25q27)[17]/,46,XY,dic r(6)(::p25q27::p25q27::)[4]/47,XY,r(6)+r(6)[2].
    At age 11 years the patient has been enrolled in special education classes.
    Aberration: Ring chromosome
    Index Terms: Dilated aortic root
    No band

  • James P A, Aftimos S, Oei P.: Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. AJMG DOI=10.1002/ajmg.a.20079; 119A:288-292, 2003. [PubMed: 12784294]
    Patient (IV:4)=46,XX,der(6)t(6;10)(p25;q25.2)pat.,Older brother of the patient (IV:1) and father (III:4) =46,XY,t(6;10)(p25;q25.2)pat.
    History of early deaths in this 3 generation family. Proband is 12 years old with severe developmental and other problems.
    Two other uncles and paternal grandfather are also carriers of this translocation. The breakpoint lies between 6p25 at D6S477/F13A and 6p24 at 6W113606.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6p-;10q+
    Index Terms: Larsen syndrome (Severe Musculoskeletal phenotype)

  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    Patient 3.
    46,XY,t(6;15)(p25;q22).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band

  • Kannu P, Oei P, Slater H R, Khammy O, Aftimos S.: Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. AJMG Part A: 140A: 1955-1959, 2006. [PubMed: 16906570]
    46,XX.ish del(6)(p25)(RP11-601L9-)dn, 2.2-2.4Mb.
    The 14 year old patient was referred to genetic because of mild developmental delay, facial appearnce, mixed pattern of deafness, and heart palpitations. The authors suggest that an epiphyseal dysplasia may be associated with this syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-

  • 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,XY,del(6)(p25)de novo
    The size of deletion is about 6.4-8.6cM and was found to be paternal in origin.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-

  • Koolen D A, Knoers N V A M, Nillesen W M, Slabbers G H P R, Smeets D, de Leeuw N, Sistermans E A, de Vries B B A.: Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. Europ. J. Hum. Genet. 13:1169-1171, 2005. [PubMed: 16118645]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-

  • Kristoffersson U, Bergwall B: Partial trisomy 15(q25qter) in two brothers. Hereditas 100:7-10, 1984. [PubMed: 6725007]
    Kristoffersson U, Heim S, Mandahl N, Sundkvist L, Szelest J, Hagerstrand I: "Monosmy and trisomy of 15q24 to qter in a family with a translocation t(6;15)(p25;q24)." Clin. Genet. 32:169-171, 1987. [PubMed: 3621663]
    A child with multiple anomalies and two other pregnancies of the mother were studied.
    46,XX and XY,t(6;15)(p25;q24).&"46,XY,-15,+der(15),t(6;15)(p25;q24)mat."&"46,XY,-6,+der(6),t(6;15)(p25;q24)mat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q-,15q+
    Negative 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 x=46,XX,add(6)(p25).ish der(6)t(6;10)(p25;p14)(wpc6+,wpc10+,3612-;wcp6-,wcp10+)
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p-;10p+
    Index Terms: CGH

  • Le Caignec C, De Mas P, Vincent M-C, Boceno M, Bourrouillou G, Rival J-M, David A.: Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. AJMG DOI=10.1002/ajmg.a.30409; 132A:175-180, 2004 and 2005. [PubMed: 15578619]
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-

  • Lese C M, Ledbetter D H.: The means to an end: exploring human telomeres. J. Assoc. Genet. Tech. 24:165-170, 1998.
    46,XY,r(6)(p25q25)
    The child had MCA: developmental and growth delay, microcephaly, hypotonia and low-set ears.
    Unique telomere FISH probe of 6q, labeled in digoxigenin and detected with anti-digoxigenin rhodamine, showed a deletion at 6q but not at 6p labeled in biotin and detected with avidin FITC.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 6q-
    Index Terms: Telomere FISH

  • Megarbane A, Bejjani B A, Shaffer L G, Jambart S, Souraty N, Kashork C D, Le Merrer M.: Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. AJMG 108:69-74, 2002. [PubMed: 11857553]
    The twin boys were first seen at 17 months of age for investigation of congenital malformations, developmental delay, and sensorineural deafness.
    Father=46,XY,t(6;11)(p25;q25)(62I11-,D11S4974+,62I11+,D11S4974-).,Twin B=46,XY.ish der(11)t(6;11)(p25;q25)(62I11+,D11S4974-)pat.
    Twin B had sugery for ptosis at age 8, and right orchidopexy at 5. He was in a school for deaf children.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6p+;11q-

  • Nishimura D Y, Swiderski R E, Alward W L M, Searby C C, Patil S R, Bennet S R, Kanis A B, Gastier J M, Stone E M, Sheffield V C.: The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genet. 19:140-147, 1998. [PubMed: 9620769]
    46,XX,der(6)t(2;6)(q35;p25).,46,XX,der(6)t(2;6)(6qter->6p25::2q25->2qter).
    This patient was diagnosed with PCG at the age of five days. Other MCA were cardiac defects, poor muscle tone, craniofacial abnormalities and hydronephrosis.
    46,XX,t(6;13)(p25.3;q22.3)de novo
    The patient was diagnosed with PCG at 6 moof age and also had other congenital anomalies.
    Aberration: Reciprocal translocation
    MIM#: 137760
    Index Terms: Glaucoma primary congenital
    No band

  • Paz-y-Mino C, Benitez J, Ayuso C, Sanchez-Cascos A: Ring chromosome 6: clinical and cytogenetic behavior. AJMG 35:481-483, 1990. [PubMed: 2333874]
    mos46,XX/46,XX,r(6)(p25q27).&A small proportion of cells showed 5 abnormal lines with various types of rings: monocentrics, interlocked rings, double rings, half-opened rings, variable-sized rings, and no rings at all (45 chromosomes).
    The patient was 13 years old with multiple congenital anomalies.
    The patient was followed for about 5 years and the proportion of cells with various mosaic cell lines did not change significantly.
    Aberration: Ring chromosome
    Negative band

  • Peeden J N, Scarbrough P R, Taysi K, Wilroy R S, Jr, Finley S C, Luthardt F W, Martens P R, Howard-Peebles P N: Ring chromosome 6: variability in phenotypic expression. AJMG 16:563-573, 1983. [PubMed: 6660249]
    Four patients with ring 6 are presented in this report.
    Patient 1 (RL011882).
    r(6)(p25q27).
    Patient 2 (FS121375).
    46,XX,r(6)(p25q27.3).
    Patient 3 (DM121280).
    46,XX,r(6)(p24 or 25 and q25 or 26).
    Patient 4 (BF040582).
    46,XY,r(6)(p25q26).&Parental karyotypes were normal.
    Aberration: Ring chromosome
    Negative band

  • Rethore M O, Hoehn H, Rott H D, Couturier J, Dutrillaux B, Lejeune J: Analyse de la trisomie 9p par denaturation menagee. Humangenetik 18:129-138, 1973. [PubMed: 4124236]
    Case No. 1 in this report.
    46,XX,t(6;9)(p25;q11).&"46,XX,t(6;9)(6qter -> 6p25::9q11 -> 9qter;9pter -> 9q11::6p25 -> 6pter)."
    Aberration: Reciprocal translocation
    Negative band

  • Rethore M O, Larget-Piet L, Abonyi D, Boeswillwald M, Berger R, Carpentier S, Cruveiller J, Dutrillaux B, Lafourcade J, Penneau M, Lejeune J: Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d''une nouvelle entite morbide. Ann. Genet. 13:217-232, 1970. [PubMed: 5313386]
    46,XX,rcp(6;9)(p25;q12).,47,XX,+der(9)t(6;9)(p25;q12)mat.,Additional information was obtained from the article by Lejeune (1973) cited in 06p250.
    Aberration: Reciprocal translocation
    Negative band

  • Scarbrough P R, Carroll A J, Finley S C, Hamerick K: "Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation." J. Med. Genet. 23:185-187, 1986. [PMC free article: PMC1049581] [PubMed: 3712400]
    Patient was 15 months old.
    46,XX,t(6;22)(p25;q11.2).&47,XY,+der(22),(22pter -> 22q11.2::6p25 -> 6pter)mat.
    Aberration: Reciprocal translocation
    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. 689
    46,XX,-6,+der(6),t(6;15)(p25;q24)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Schroer R J, Culp D M, Stevenson R E, Potts W E, Taylor H A, Simensen R J: Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6. Clin. Genet. 18:83-87, 1980. [PubMed: 7418257]
    46,XX,inv(6)(p25q25).&46,XX,rec(6)dup q inv(6)(p25q25).&The presence of the inverted chromosome was documented in three generations of this family with a number of spontaneous abortions and perinatal deaths. The patient was 1 year old with a number of anomalies.
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Perinatal death
    Negative band

  • Stegmann A P A, Jonker L M H, Engelen J J M.: Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Europ. J. Med. Genet. 51: 93-105, 2008. [PubMed: 18032123]
    Patient 6:
    46,XY,.ish der(6)t(6;13)(p25;q34).
    53/466 patients with idiopathic MR with or without additional congenital abnormalities were detected by Multiplex Ligation-dependent Probe Amplification (MLPA).
    Aberration: RT,ID
    Chromosomal Aneuploidy: 6p-

  • Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]
    Couple No. 8 in Group I with 6 abortions:
    46,XY,t(6;7)(p25;q22).
    Aberration: Simple translocation
    Negative band

  • Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner R-D, Bollmann R, Becker R, Schulzke I, Korner H.: Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. AJMG DOI=10.1002/ajmg.10215;108:97-104, 2002. [PubMed: 11857558]
    Case 1=mos46,XY,r(6)(p25q27)[44]/45,XY,-6.,Case 2=mos46,XY,r(6)(p25q27)[92]/45,XY,-6[8].,Case 3=mos46,XY,r(6)(p25q27)/45,XY,-6.
    All three pregnancies were terminated.
    Aberration: Ring chromosome

  • Walker M E, Lynch-Salamon D A, Milatovich A, Saal H M.: Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus. Prenat. Diag. 16:857-861, 1996. [PubMed: 8905901]
    mos45,XY,-6 (9 cells)/45,XY,-6,+f (6 cells)/46,XY,r(6)(p25q27)(5 cells) in amniotic cultured cells.,mos46,XY,r(6)(p25q27)(19/20 cells)/47,XY,r(6),+r(6).
    The mother was referred at 25 weeks gestation for placenta previa. The infant has had surgery. He has hypotonia, microcephaly, and global developmental delay.
    The 15 year old mother had normal chromosomes.
    Aberration: Ring chromosome
    Index Terms: Hydrocephalus
    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,XX,t(6;20)(p25;q13.1).
    46,XX,t(6;9)(p25;q22).&46,XX,inv(6)(p25q14).&46,XX,inv(6)(p25q21).
    Aberration: RT,PI
    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,XX,t(6;10)(p25;p12).
    Anemia.
    Aberration: Reciprocal translocation
    Negative band