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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M, Ichimura K, Yuasa Y, Tonomura A: "Constitutional translocation t(4;22)(q12;q12.2) associated with neurofibromatosis type 2." AJMG 44:163-167, 1992. [PubMed: 1456285]The 24 year old patient had a history of bilateral acoustic neurinoma.46,XX,der(4)der(22)rcp(4;22)(q12;q12.2)pat.No one else in the family had clinical symptoms of NF2.Aberration: Reciprocal translocationMIM#: 101000Index Terms: Neurofibromatosis ... type 2,NeurinomaNegative band
- Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
Baena N.: Personal Communication., April 11, 2003.t(4;12)(q12;p12.3)Maternal age was 38, gestational age was 18 weeks. Pregnancy was terminated.Aberration: Reciprocal translocation - Beall M H, Falk R E, Ying K L: A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. AJMG 31:553-557, 1988. [PubMed: 3067576]46,XY,del(4)(pter -> q12::q21.1 -> qter).This patient and 6 others have moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance.Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-Negative band
- Bernstein R, Milne A T, Jenkins T: Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm. J. Med. Genet. 15:310-314, 1978. [PMC free article: PMC1013706] [PubMed: 712764]46,XY,t(4;9)(q12;p24),r(4)(p1?6q12).&"46,XY,t(4;9)(4qter -> 4q12::9p24 -> 9qter),r(4)(p1?6 -> q12)."&A 3 year-old mentally retarded boy is described with this interesting karyotype.Aberration: Simple translocationNegative 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]
Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]46,XX,t(4;6)(q12;q14).Aberration: Reciprocal translocationNegative band - Cabral de Almeida J C, Reis D F, Llerena J C, Jr: "Pure 4p trisomy due to a de novo 4q;22p dicentric translocated chromosome karyotype 46,XX,-22,+t(4;22)(q1200;p13)." Ann. Genet. 34:108-110, 1991. [PubMed: 1746879]Patient ARS was 16 years old.46,XX,-22,+t(4;22)(q12;p13).Aberration: Simple translocationChromosomal Aneuploidy: 4p+Negative band
- Cooke A, Tolmie J L, Colgan J M, Greig C M, Connor J M: "Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry." Hum. Genet. 83:83-87, 1989. [PubMed: 2570022]
Kamnasaran D, O''Brien P C M, Schuffenhauer S, Quarrell O, Lupski J R, Grammatico P, Ferguson-Smith M A, Cox D W.: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. AJMG 102:173-182, 2001. [PubMed: 11477612]46,XY,t(4;14)(q12;q13).&"46,XY,der t(4;14)(q12;q13)pat."Aberration: Simple translocationIndex Terms: Flow cytometryNegative band - Curtis M A, Quarrell O W J, Cobon A M, Cummins M: Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities. J. Med. Genet. 27:64-66, 1990. [PMC free article: PMC1016885] [PubMed: 2308158]46,XY,del(4)(pter -> q12::q21.1 -> qter)de novo.Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-Negative band
- Dauwerse J G, de Vries B B A, Wouters C H, Bakker E, Rappold G, Mortier G R, Breuning M, Peters D J M.: A t(4;6) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. Europ. J. Hum. Genet. 15: 743-751, 2007. [PubMed: 17440500]46,XY,t(4;6)(q12;p23)dnPatient was 31 years old with short-stature, sever brachydactyly and cutaneous syndactyly of the fingers.Aberration: Reciprocal translocationIndex Terms: Membrane-associated O-acetyl transferase gene (MBOAT1),Brachydactyly-syndactyly syndrome
- De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]t(4;11)(q12;q25).Aberration: Reciprocal translocationNegative band
- Fujimoto A, Reddy K S, Spinks R.: Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a Piebald trait, due to maternal insertion, ins(8;4). AJMG 75:78-81, 1998. [PubMed: 9450862]Mother=46,XX,ins(8;4)(q21.2;q12q21.2).,Propositus=46,XY,der(4)ins(8;4)(q21.2;q12q21.1)mat.At age of 7 months, the infant had moderate growth and MR accompanied by Piebald trait.Aberration: Direct insertion between two chromosomesMIM#: 172800Chromosomal Aneuploidy: 4q-Index Terms: Piebaldism,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Funderburk S J, Crandall B F: Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. AJHG 26:715-722, 1974. [PMC free article: PMC1762855] [PubMed: 4140688]Patient J.B. in this report.46,XY,t(4;15)(q12;q12).&"46,XY,t(4;15)(4pter -> 4q12::15q12 -> 15qter;15pter -> 15q11::4q21 -> 4qter)."Aberration: Reciprocal translocationMIM#: 172800Negative band
- Giraud F, Mattei J F, Mattei M G, Ayme S, Bernard R: Trisomy 4p. Three new observations. Humangenetik 30:99-108, 1975. [PubMed: 1193607]Case III-4 in this report.46,XX,der(4)der(15)t(4;15)(q12;q13)mat.Cases III-5 and 6 in this report.46,XX and XY,-15,+der(15)t(4;15)(q12;q13)mat.&It is difficult -> follow the interpretation of the karyotype from the figure in the report.Family B II-13 in this report.46,XX,t(4;15)(q12;q13).Aberration: Simple translocationNegative band
- Hoo J J, Haslam R H A, van Orman C: Tentative assignment of piebald trait gene to chromosome band 4q12. Hum. Genet. 73:230-231, 1986. [PubMed: 3733079]Patient was 6 1/2 years old; parental karyotypes were normal.46,XY,del(4)(q12q21.1).Aberration: Interstitial deletionMIM#: 172800Negative band
- Karmous-Benailly H, Tabet A-C, Thaly A, Dupuy O, Huten Y, Luton D, Baumann C, Delezoide A-L.: Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly? Prenat. Diag. 25:193-197, 2005. [PubMed: 15791668]Father=46,XY.ish t(4;22)(q12;q11.1),(wcp4+,wcp22+,D4Z1+,D22Z1-,wcp4+,wcp22-,D4Z1-,D22Z1+).,Fetus=46,XY,-22,+der(4)t(4;22)(q12;q11.1)pat.ish22q11.2(TUP:E1x2).The diagnosis of HPE was made at 33 weeks.Aberration: Simple translocationChromosomal Aneuploidy: 4p+Index Terms: Holoprosencephaly (HPE)
- 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 11=46,XX.del(4)(q12q12),t(10;16)(p11;q21)de novo.Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.Aberration: ID,STChromosomal Aneuploidy: 4q-
- Lech H, Kubalska J, Wisniewski Lu: The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4. Klin. Pad. 194:117-119, 1982. [PubMed: 7098371]Patient was 4 years old. Parental karyotypes were normal.46,XX,del(4)(pter -> q12::q21 -> qter).Aberration: Interstitial deletionNegative band
- Nucci P, Mets M B, Gabianelli E B: Trisomy 4q with morning glory disc anomaly. Ophthal. Paediat. Genet. 11:143-145, 1990. [PubMed: 2377355]Segment (q12 -> qter) was trisomic.Patient was a 9 year old black girl and evaluated for strabismus.Chromosomal Aneuploidy: 4q+Index Terms: Strabismus,Morning glory disc anomalyNegative band
- Pescia G, Tonella A, Jotterand-Bellomo M: Monosomy/trisomy 4q12 to 4q13 mosaicism in a girl with mental retardation and dysmorphism. Ann. Genet. 25:110-112, 1982. [PubMed: 6984625]Patient was 8 years old. Parental karyotypes were normal.46,XX,del(4)(pter -> q12::q13 -> qter)/46,XX,ins(4,4)(q12)(q12/q13).Aberration: Interstitial deletionNegative band
- Schinzel A, Braegger C P, Brecevic L, Dutly F, Binkert F.: Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. J. Med. Genet. 34:692-695, 1997. [PMC free article: PMC1051037] [PubMed: 9279767]46,XX,t(4;18)(4pter->4q12::18q23->18qter;18pter->18q23::4q21.1->4qter)del(4)(q12->q21.1)de novo.The patient was short (<3rd %ile), microcephalic, and mentally retarded. Other anomalies were prominent occiput, delayed closure of the anterior fontanelle, high frontal hairline, prominent ears, upward slanting palpebral fissures, a small nose with bulbous tip, delayed tooth eruption and bone maturation, and short and tapering fingers and toes.The patient did not have a white forelock.Aberration: ID,STMIM#: 172800Chromosomal Aneuploidy: 4q-Index Terms: Piebaldism,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Shashi V, Berry M N, Santos C, Pettenati M J.: Partial duplication of 4q12q13 leads to a mild phenotype. AJMG 86:51-53, 1999. [PubMed: 10440828]46,XY,dup(4)(q12q13).ish dup(4)(q12q13)(wcp4+)The patient was of mixed ancestry with microcephaly, MR, and minor facial anomalies.Aberration: DuplicationChromosomal Aneuploidy: 4q+
- Sijmons R H, Kristoffersson U, Tuerlings J H A M, Ljung R, Dijkhuis-Stoffelsma R, Breed A S P M.: Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. Pediat. Dermatol. 10:235-239, 1993. [PubMed: 8415299]46,XX,del(4)(q12q21)de novo.Patient was 4 years old and had congenital depigmentation of ventrolateral parts of the chest, abdomen, and legs. Other dysmorphic features were of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle.Aberration: Interstitial deletionMIM#: 172800Chromosomal Aneuploidy: 4q-Index Terms: PiebaldismNegative band
- Slavotinek A, Kingston H.: Interstitial deletion of bands 4q12->q13.1: case report and review of proximal 4q deletions. J. Med. Genet. 34:862-865, 1997. [PMC free article: PMC1051098] [PubMed: 9350824]46,XX,del(4)(pter->q12::q13.1->qter)de novo.The 6 year old girl attends normal school with minimal assistance.Aberration: Interstitial deletionChromosomal Aneuploidy: 4q-
- Velagaleti G V N, Lockhart L H, Schmalstieg F C, Goldman A S.: Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations. AJMG 102:139-145, 2001. [PubMed: 11477605]Proband=46,XY,+der(4)t(4;13)(q12;q12)mat,-13.,The translocation is segregating for three generations in this family.The 6 year old proband had MCA, MR, developmental delay, and an increased frequency of upper and lower respiratory infections and deficiency of all blood lymphocyte populations.Aberration: Reciprocal translocationChromosomal Aneuploidy: 13q-;4p+;4q+Index Terms: Blood lymphocyte deficiency
- Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. AJMG DOI=10.1002/ajmg.a.20378; 124A:10-18, 2003 and 2004. [PubMed: 14679581]Patient 2=46,XY,der(4)t(4;7)(4pter->4q12::7q11.23->7qter),der(7)t(4;7)(7pter->7q11.23::4q12->4q21.3::14q24.1->14qter)der(14)t(4;14)(14pter->14q24.1::4q21.3->4qter)de novo.Patient was a newborn.Aberration: Complex translocation
- Yamamoto Y, Nishimoto H, Ikemoto S: Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial Piebald trait. AJMG 32:520-523, 1989. [PubMed: 2773996]46,XY,del(4)(q12q21.1).Aberration: Interstitial deletionMIM#: 139200,172800Chromosomal Aneuploidy: 4q-Negative band
- Zahed L, Oreibi G, El-Amine H, Obeid M, Bitar F F.: A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. AJMG DOI=10.1002/ajmg.a.30084, 2004. [PubMed: 15211659]Patient NK died soon after birth and the Blalock-Taussig correction.46,XX,idic(4)(q12),der(22)t(4;22)(q12;q13)de novoAberration: IC,WTChromosomal Aneuploidy: 4p+
- 04q120 - Chromosomal Variation in Man04q120 - Chromosomal Variation in Man
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