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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- Blank C E, Colver D C B, Potter A M, McHugh J, Lorber J: Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9. Clin. Genet. 7:261-273, 1975. [PubMed: 1126048]46,XX,t(9;22)(q13;q11).&"46,XX,t(9;22)(9qter -> 9q13::22q11 -> 22pter;9pter -> 9q13::22q11 -> 22qter)."&"46,XX and XY,der(9)der(22)t(9;22)(q13q11)mat."&"46,XX and XY,-22,+der(9)t(9;22)(q13;q11)mat."&Translocation present in four generations of this family. Affected individuals are trisomic for the short arm.Aberration: Reciprocal 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]t(9;22)(q13;q13).Aberration: Reciprocal translocationNegative band
- Campuzano V, Montermini L, Molto M D, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani S I, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P I, Di Donato S, Mandel J L, Cocozza S, Koenig M, Pandolfo M.: Friedreich''s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427, 1996. [PubMed: 8596916]A gene, X25, encodes frataxin,a 210-amino acid protein, has been identified in the critical region at 9q13.MIM#: 229300Index Terms: Friedreich's ataxiaNegative band
- Cavalcanti D P, Ferrari I, de Almeida J C C, de Pina Neto J M, de Oliveira J A: Tetrasomy 9p caused by idic(9)(pter to q13 to pter). AJMG 27:497-503, 1987. [PubMed: 3631125]Patient died 63 days after birth.47,XY,i dic(9)(pter -> q13 -> pter).Aberration: Dicentric chromosomeChromosomal Aneuploidy: 9p+Negative band
- Davis J R, Rogers B B, Hagaman R M, Thies C A, Veomett I C: Balanced reciprocal translocations: risk factors for aneuploid segregant viability. Clin. Genet. 27:1-19, 1985. [PubMed: 3884190]Case 75-311.t(9;20)(q13;q13)mat.Aberration: Reciprocal translocationNegative band
- 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(9;15)(q13;q11).Aberration: Reciprocal translocationNegative band
- Gripenberg U, Hongell K, Iivanainen M, Kivimaki T: Free trisomy 9p in an elderly woman. Ann. Genet. 20:36-40, 1977. [PubMed: 302671]Case E.R., 231226 in this report.47,XX,+del(9)(pter -> q13?:).&The 50 year old patient was mentally retarded with dysmorphic facies, severe cerebral malformations, limb deformities and retarded sexual maturation.Aberration: Terminal deletionIndex Terms: Facial dysmorphismNegative band
Hou J W, Wang T R.: Molecular cytogenetic studies of duplication 9q32->q34.3 inserted into 9q13. Clin. Genet. 48:148-150, 1995. [PubMed: 8556822]46,XX,dup ins(9)(pter->q13::q32->q34.3::q13->qter)de novo.Patient has MCA/MR.Aberration: DuplicationChromosomal Aneuploidy: 9q+Negative band- Jalal S M, Kukolich M K, Garcia M, Day D W: Euchromatic 9q+ heteromorphism in a family. AJMG 37:155-156, 1990. [PubMed: 2240035]46,XX and XY,9q+.The proband died 11 hours after birth due to hypoplastic lungs and fetal hydrops.,All other carrier members of the family are normal.Aberration: Marker chromosomeNegative band
- Kadotani T, Watanabe Y, Katano T: A case of partial 9q trisomy. Proc. Jpn. Acad. (Ser. B) 60:131-133, 1984.46,XX,der(20)t(9;20)(q13;p13).Aberration: Simple translocationNegative band
- Kardon N B, Salwen H R, Krauss M A, Davis J G, Jenkins E C: De novo trisomy 9pter to q13. Hum. Genet. 37:149-153, 1977. [PubMed: 885535]Four month old proband (150675) with multiple congenital anomalies.&47,XY,+del(9)(q13).&47,XY,+del(9)(pter -> q13:).Parents and sibs had normal karyotypes. Proband at 4 months of age: head circumference 41.5 cm., height 58 cm. and weight 6908 grams. Deep-set eyes with hypertelorism, low-set, predominant and rotated ears, a bulbous nose, high arched palate, and the corners of the mouth were down turned. Hypoplastic fingernails, bilateral clinodactly, finger contractures, bilateral equinovarus, overlapping toes and a first degree hyposadias. At 15 months of age his psychomotor development was that of an 8 month old. Skeletal survey: hypoplastic digits. Bilateral simian creases. The axial triradii were distally placed at the t'' position, atd angle = 50 degrees. Bilateral fusion of the b and c triradii. Dermal ridge patterns consisted of 9 arches and 1 ulnar loop with a total finger ridge count of five. The authors of this report suggest a modification of Sutherland''s hypothesis (Sutherland, G R et al) Hum. Genet. 32:134-140, 1976; that the 9q+ region contains little additional phenotypic affect when present in the trisomic state. They suggest that certain clinical abnormalities such as club feet, finger contractures, and hypospadia are due to trisomy 9q+.Aberration: Terminal deletionIndex Terms: Clinodactyly,Ears ... low-set,Eye ... deep set,Foot ... talipes equinovarus (club foot),Hypertelorism,Hypospadias,Mouth ... downturned corners,Nails ... hypoplasia,Palate ... high arched,Toes ... overlappingNegative band
- Katano T, Murakami M, Kadotani T: Further cytogenetic studies on 105 cases from genetic counselling. Proc. Jpn. Acad. (Ser. B) 56:263-267, 1980.Case No. 121, 3 months old with micrognathia, low set ear, clinodactyly of both fifth fingers, high arched palate, and spastic lower extremities.Case No. 123; 31 year old female.46,XX,ins(9;X)(q13;q22q24).Aberration: Direct insertion between two chromosomesIndex Terms: Clinodactyly,Ears ... low-set,Micrognathia,Palate ... high arched,Spastic toneNegative band
- Knight L A, Soon G M, Tan M: Extra G positive band on the long arm of chromosome 9. J. Med. Genet. 30:613, 1993. [PMC free article: PMC1016467] [PubMed: 8411040]46,XY,der(9q+)(q13q22)mat.The boy was normal at birth.The excess material was C band negative.Aberration: DU,MAChromosomal Aneuploidy: 9q+Negative band
- Luke S, Verma R S: "Genetic consequences of ""euchromatic"" band within 9qh region." AJMG 45:107, 1993. [PubMed: 8418641]
Luke S, Verma R S, PeBenito R, Macera M J: Inversion-duplication of bands q13-q21 of human chromosome 9. AJMG 40:57-60, 1991. [PubMed: 1844393]46,XX,inv dup(9)(q21 -> q13).The 16 7/12 old had psychomotor retardation, microcephaly, narrow palpebral fissures, renal and genital anomalies, vertebral anomalies, protuding tongue, and learning and behavioral problems.Aberration: DU,INChromosomal Aneuploidy: 9q+Negative band - McPherson E, Neiswanger K, Surti U.: Tetrasomy 9q in an infant with cleft palate and multiple anomalies. Clin. Dysmorphol. 14:145-147, 2005. [PubMed: 15930905]46,XY,trp(9)(q13q22.1)de novoThe phenotype of the 4-month-old patient includes cleft palate, microcephaly, beaked nose, short palpebral fissures, camptodactyly, joint contractures, and moderate developmental delay.Aberration: TRPChromosomal Aneuploidy: 9q+Index Terms: Triplication 9q
- Mori M A, Gomar J L, de Bustamante A D, Ananias A, Pinel I, Martinez-Frias M L: Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. AJMG 26:203-206, 1987. [PubMed: 3812563]
Pinel I, Urioste M, Martinez-Frias M L, Gomar J L: "Endoreduplications in a family with a reciprocal translocation (9q;16p)." Clin. Genet. 38:399-400, 1990. [PubMed: 2282723]46,XX,t(9;16)(q13;p13)mat.&"47,XY,+der(9),t(9;16)(q13;p13)mat."Aberration: Reciprocal translocationChromosomal Aneuploidy: 16pNegative band - Peters J, Pehl C, Miller K, Sandlin C J: Case report of mosaic partial tetrasomy 9 mimicking Klinefelter syndrome. BD-OAS XVIII(No. 3B):287-293, 1982. [PubMed: 7139111]The patient was 29 years old.&mos46,XY/47,XY,+1 dic(pter -> q13::q13 -> pter).Aberration: Dicentric chromosomeIndex Terms: Klinefelter syndromeNegative 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. 2 in this report.46,XX,t(9;22)(q13;q13).&"46,XX,t(9;22)(9pter -> 9q13::22q13 -> 22qter;22pter -> 22q13::9q13 -> 9qter)."Aberration: Reciprocal translocationNegative band
- Schinzel A A, Hayashi K, Schmid W: "Trisomy 9p due to paternal translocation, t(9;13)(q13;q12)." Humangenetik 30:307-316, 1975. [PubMed: 1218860]46,XX,t(9;13)(q13;q12).&"46,XX,t(9;13)(9pter -> 9q13::13q12 -> 13qter;13pter -> 13q12::9q13 -> 9qter)."&"46,XY,der(9)der(13)t(9;13)(q13;q12)mat and pat."Case IV-5 (000059) in this report.46,XX,-13,+der(13)t(9;13)(q13;q12).&The patient is trisomic for the short arm of 9 and had short stature, severe mental retardation and peculiar face with hypertelorism.Aberration: Reciprocal translocationIndex Terms: Facial dysmorphism,Hypertelorism,Stature ... short (low)Negative band
- Subrt I, Blehova B, Pallova B: Trisomy 9p resulting from maternal 9/21 translocation. Hum. Genet. 32:217-220, 1976. [PubMed: 944684]46,XX,t(9;21)(q13;q11).&"46,XX,t(9;21)(9pter -> 9q13::21q11 -> 21qter;21pter -> 21q11::9q11 -> 9qter)."Patient M.H. (140275) in this report.46,XX,-21,+der(9)t(9;21)(q13;q11)mat.Aberration: Reciprocal translocationNegative band
- Surana R B, Rafi S K, Christopher K L, Reid T J, Weiss R B.: Constitutional heteromorphism of 9q13->q21 in a patient with chronic myelogenous leukemia. Clin. Genet. 47:321-323, 1995. [PubMed: 7554367]Proband was 44 years old wuth CML.46,XY,var(9)(q13->q21).The var(9) was present in the patient''s son.Aberration: Marker chromosomeIndex Terms: CMLNegative band
- Turleau C, de Grouchy J, Chavin-Colin F, Roubin M, Langmaid H: Trisomy 9p: two further observations. Ann. Genet. 17:167-174, 1974. [PubMed: 4548817]46,XX and XY,t(9;15)(q13;q25).&"46,XX and XY,t(9;15)(9pter -> 9q13::15q25 -> 15qter;15pter -> 15q25::9q13 -> 9qter)."&"46,XX and XY,-9,-15,+der(9)der(15)(q13;q25)mat and pat."Case 1 (No. 6322) 060173 in this report.47,XX,+der(9)t(9;15)(q13;q25)mat.Aberration: Reciprocal translocationNegative band
- Wirtz A: Personal communication, 1978.46,XY,del(9)(pter -> q13::q22 -> qter).Aberration: Interstitial deletionNegative band
- Wyandt H E, Hecht F, Magenis R E, Wysham D G, Prescott G H: 9p trisomy identified by Giemsa-11. Hum. Genet. 31:355-358, 1976. [PubMed: 955631]47,XX,+del(9).&47,XX,+del(9)(pter -> q13:).&The four year old proband had moderate retardation and multiple anomalies.Aberration: Terminal deletionNegative band
- Yamamoto Y, Oguro N, Nara T, Horita H, Niitsu N, Imaizumi S: "Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis." AJMG 31:379-384, 1988. [PubMed: 2852899]S.K. was 9 months old.46,XX,inv ins(12;9)(p13;q32q13).&"46,XY,-12,+der(12)inv ins(12;9)(p13;q32q13)mat."Patient had multiple congenital anomalies.It appears that pyloric stenosis appears to be common in cases with proximal 9q duplications.Aberration: Inverted insertions between chromosomesMIM#: 179010Chromosomal Aneuploidy: 9q+Index Terms: Pyloric stenosisNegative band
- Zaremba J, Zdzienicka E, Glogowska I, Abramowicz T, Taracha B: "Four cases of 9p trisomy resulting from a balanced familial translocation (9;15)(q13;q11). Clinical picture and cytogenetic findings. Notes on dermatoglyphics by D. Loesch." J. Ment. Def. Res. 18:153-190, 1974. [PubMed: 4141378]46,XX,t(9;15)(q13;q11).&"46,XX,t(9;15)(9pter -> 9q13::15q11 -> 15qter;9qter -> 9q13::15q11 -> 15pter)."&"46,XX and XY,-9,-15,+der(9)der(15)t(9;15)(q13;q11)mat."&"46,XX,-15,+der(9)t(9;15)(q13;q11)mat and pat."Aberration: Reciprocal translocationNegative band
- 09q130 - Chromosomal Variation in Man09q130 - Chromosomal Variation in Man
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