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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- Same entry as in 0Xq21.1 (Waters et al, 2001).
- Ayyash H, Mueller R, Maltby E, Horsfield P, Telford N, Tyler R.: A report of a child with a deletion (9)(q34.3): a recognisable phenotype? J. Med. Genet. 34:610-612, 1997. [PMC free article: PMC1051009] [PubMed: 9222977]46,XY,del(9)(q34.3)de novoSevere developmental delay and severe respiratory difficulty leading to early death may be the features. This patient died at the age of 17 weeks.This deletion was detected only after some effort.Aberration: Terminal deletionChromosomal Aneuploidy: 9q-No band
- Baker E, Hinton L, Callen D F, Altree M, Dobbie A, Eyre H J, Sutherland G R, Thompson E, Thompson P, Woollatt E, Haan E.: Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. AJMG DOI=10.1002/ajmg.10159;107:285-293, 2002. [PubMed: 11840484]Patient 5:46,XY.ish der(14)t(9;14)(q34.3;q32.33)mat(PAC112N13+;PACdJ820M16-).The patient was a 17-year-old male with moderate global intellectual ability, short stature, microcephaly and a positive family history.The balanced translocation was found in three other maternal relatives.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9q+;14q-
- Battista Ferrero G, Belligni E, Sorasio L, Giovanni Delmonaco A, Oggero R, Faravelli F, Pierluigi M, Silengo M.: Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. AJMG DOI=10.1002/ajmg.a.31188; 140A:892-894, 2006. [PubMed: 16532464]Father=46,XY,t(9q;16q).,Patient=46,XY,der(9)t(9;16)(q34.3;q24.3)pat.The 3 year-old patient had complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome.Partial 1.2 Mb deletion 9q34.4-ter and partial 2.76 Mb trisomy 16q24.3-ter was detected by subtelomeric FISH analysis. Chromosome 9 breakpoint was located between RP11-216l13 and RP11-188C12 and 16 breakpoint between RP11-482M8 and RP11-104N10.Aberration: Simple translocationMIM#: 222448Chromosomal Aneuploidy: 9q-;16q+Index Terms: Donnai-Barrow syndrome
- 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;19)(q343;p11).Aberration: Reciprocal translocationNegative band
- Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]Case No. 7:46,XX,t(9;11)(q34.3;p15.3),wcp9-;TEL11p+Case was studied because of developmental delay and dysmorphic features.Aberration: Simple translocation
- Estop A M, Mowery-Rushton P A, Cieply K M, Kochmar S J, Sherer C R, Clemens M, Surti U, McPherson E.: Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features. J. Med. Genet. 32: 819-822, 1995. [PMC free article: PMC1051710] [PubMed: 8558564]46,XX and XY,der t(9;17)(q34.3;p13.3)mat.,46,XY,-17,+der(17),t(9;17)(17qter->17p13.3::9q34.3->9qter)mat.The boy had IUGR, postnatal short stature, mild microcephaly, incomplete myelination but no evidence of lissencephaly.FISH was performed using various probesincluding D17S379 (Oncor), D17S34 (Oncor), pBS17 (Dr. Pinkel), 5B11(Dr. Kwiatkowski) containing D9S113.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9q+;17p-Negative band
- Gijsbers A C J, Bijlsma E K, Weiss M M, Bakker E, Breuning M H, Hoffer M J V, Ruivenkamp C A L.: A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation. Europ. J. Med. Genet. 51: 479-487, 2008. [PubMed: 18547887]46,XX,add(9)(q34).arr 9q34.3q34.3(rs7043655->rs3849220)x3,9q34.3(rs7873626->rs7848769)x4,9q34.3q34.3(rs7860423->rs1820789)x3 dn.Patient was 16 years old, with sevre MR, mild facial asymmetry, and narrow palpebral.fissures.Aberration: DuplicationChromosomal Aneuploidy: 9q+Index Terms: Triplication
- Harada N, Abe K, Kondon T, Hirota T, Niikawa N: Satellited chromosome 9 in a boy with multiple anomalies. Jpn. J. Hum. Genet. 34:297-305, 1989. [PubMed: 2634790]
Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N.: Subtelomeric specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J. Med. Genet. 41:130-136, 2004. [PMC free article: PMC1735677] [PubMed: 14757861]
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N.: A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J. Hum. Genet. DOI=10.1007/s10038-004-0166-z, 2004. [PubMed: 15258833]
Iwakoshi M, Okamoto N, harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.: 9q34.3 deletion syndrome in three unrelated children. AJMG DOI=10.1002/ajmg.a.20602; 126A:278-283, 2004. [PubMed: 15054842]Case A=46,XY,der(9)t(9;22)(q34.3;q11.21)de novo.Patient was five years old and had MCA.Paternal origin was determined using chromosomal polymorphisms.Patient 1=46,XX,del(9)(q34.3)de novo.,Patient 2=46,XY,del(9)(q34.3)de novo.,Patient 3=46,XY,der(9)t(6;9)(p25;q34.3)de novoThe authors conclude that 9q34.3 deletion syndrome characteristics include flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted npstrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes.Patient N03R003=46,XY.ish del(9)(q34.3)de novoThe patient was 8 years old and had severe MR, seizures, microcephaly, dysmorphic face, and other anomalies.Aberration: TD,RTChromosomal Aneuploidy: 9q- - Kannu P, Winship I, Aftimos S.: Further case report of a child with a 9q34 deletion and a review of the reported cases. AJMG DOI=10.1002/ajmg.a.30507; 133A:219-221, 2005. [PubMed: 15633185]46,XY.ish del(9)(q34.3;D9S2168-)de novoThe 6 year old Filipino boy was re-evaluated in the genetics clinic.Aberration: Terminal deletionChromosomal Aneuploidy: 9q-
- Kleefstra T, Koolen D A, Nillesen W M, de Leeuw N, Hamel B C J, Veltman J A, Sistermans E A, van Bokhoven H, van Ravenswaay C, de Vries B B A.: Interstital 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. AJMG DOI=10.1002/ajmg.a.31123; 140A:618-623, 2006. [PubMed: 16470689]
Kleefstra T, Smidt M, Banning M J G, Oudakker A R, Van Esch H, de Brouwer A P M, Nillesen W, Sistermans E A, Hanel B C J, de Bruijn D, Fryns J-P, Yntema H G, Brunner H G, de Vries B B A, van Bokhoven H.: Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J. Med. Genet. 42:299-306, 2005. [PMC free article: PMC1736026] [PubMed: 15805155]46,XX,del(9)(q34.3).46,X,t(X;9)(p11.23;q34.3)de novoThe authors suggest that haploinsufficiency of Eu-HMTase1 is likely to be responsible for the majority of signs and symptoms of the patient, which largely overlap those with subtelomeric deletions of 9q. The critical region is 1.2 Mb and encompasses 14 genes.The breakpoint in Eu-HMTase1 is situated 11 bp from the 3'' end of exon 8, resulting in a derivative chromosome 9 with a fusion of the 5'' end of the gene Eu-HMTase1 to the 5'' end of the X chromosome gene ZNF81. The translocation is fully balanced.Aberration: Reciprocal translocationMIM#: 607001Chromosomal Aneuploidy: 9q-Index Terms: Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) - Leube B, Majewski F, Drechsler M, Royer-Pokora B. : Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH. Clin. Dysmorphol. 12:261-265, 2003. [PubMed: 14564215]46,XX,der(14)t(9;14)(q34.3;q32.33)mat.The 3 1/2 year old girl had dysmorphic features and moderate developmental delay.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9q+;14q-
- Masuno M, Fukushima Y, Sugio Y, Kuroki Y: Partial distal 12q trisomy with arachnoid cyst. Jpn. J. Hum. Genet. 32:39-43, 1987. [PubMed: 3613245]Patient was 3 years old with several congenital anomalies.Mother: 46,XX,t(9;12)(q34.3;q24.31).&"Proband:46,XY,-9,+der(9)t(9;12)(9pter -> 9q34.3::12q24.31 -> 12qter)mat."Aberration: Reciprocal translocationChromosomal Aneuploidy: 12q+Index Terms: Cyst ... arachnoidNegative band
- McGoey R R, Lacassie Y.: Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3;1 meiotic segregation and tertiary monosomy. AJMG Part A: 149A: 2538-2542, 2009. [PubMed: 19876901]45,XX,der(9)t(9;22)(q34.3;q11.2)pat,-22.The infant had VCFS.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9q-; 22q-
- Neas K R, Smith J M, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, Tzioumi D, Sillence D O, Mowat D. : Three patients with terminal deletions within the subtelomeric region of chromosome 9q. AJMG 132A:425-430, 2005. [PubMed: 15633179]All three patients had=46,XY,ish del(9)(q34.3q34.3)(D9S325-,D9S2168-)de novo.,In addition of the above Case 2=45,XY,der t(13;14)(q10;q10)pat.Case 1 patient died at home aged 10 months. He had recurrent respiratory tract infections and congestive heart failure.,Case 2 patient died at 3 months of age. He had tetralogy of Fallot.Aberration: Terminal deletionChromosomal Aneuploidy: 9q-
- Quigley D I, Kaiser-Rogers K, Aylsworth A S, Rao K W.: Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes. AJMG DOI=10.1002/ajmg.a.20457; 125A:67-72, 2003 and 2004. [PubMed: 14755469]46,XY.ish der(9)t(9;19)(q34.3;p13.3)(9qsubtel-,19psubtel+)pat.The 9-year-old presented with multiple problems including developmental delay, alopecia totalis, microcephaly, and dysmorphic features.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9q-;19p+
- Schimmenti L A, Berry S A, Tuchman M, Hirsch B: Infant with multiple congenital anomalies and deletion (9)(q34.3). AJMG 51:140-142, 1994. [PubMed: 7522397]46,XY,del(9)(q34.3)de novo.Patient was examined at the age of 5 months because of MCA. On two previous analyses, prenatal amniocentesis and new born blood, chromosomes were reported to be normal.Aberration: Terminal deletionChromosomal Aneuploidy: 9q-Negative band
- Simovich M J, Yatsenko S A, Kang S-H L, Cheung S W, Dudek M E, Pursley A, Ward P A, Patel A, Lupski J R.: Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat. Diag. DOI=10.1002/pd.1841, 2007. [PubMed: 17849500]46,XY,t(2;9)(q11.2;q34.3)dn,del(9q34.3)98 known and predicted genes, including EHMT1 gene, are thought to be in the deleted region of about 2.2-3.3 Mb in size.Aberration: ID,RTChromosomal Aneuploidy: 9q-
- Toriello H V, Glover T W, Takahara K, Byers P H, Miller D E, Higgins J V, Greenspan D S.: A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nature Genet. 13:361-365, 1996. [PubMed: 8673139]The patient was 12 years old with EDS type 1.46,X,t(X;1)(p21.1;q34.3).Aberration: Reciprocal translocationMIM#: 120215,130000,146150Index Terms: Ehlers-Danlos syndrome,Hypomelanosis of ItoNegative band
- Yatsenko S A, Cheung S W, Scott D A, Nowaczyk M J M, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy J G, Scaglia F, Stankiewicz P, and Lupski J R. : Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J. Med. Genet. 42:328-335, 2005. [PMC free article: PMC1736036] [PubMed: 15805160]5 unrelated patients, KCL1 to KCL5, were studied.46,XX(orY),del(9)(q34.3)(D9S325-).Aberration: Terminal deletionMIM#: 211750Chromosomal Aneuploidy: 9q-Index Terms: Opitz C trigonocephaly (OTCS)
- 09q343 - Chromosomal Variation in Man09q343 - Chromosomal Variation in Man
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