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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- Back E, Jung C, Zeitler S, Schempp W.: De novo duplication of 7pter->p21.2 and deletion of 9pter->p23.5: clinical and cytogenetic diagnosis. Clin. Genet. 51:56-60, 1997. [PubMed: 9084937]46,XY,der(9)t(7;9)(p21.2;p23.5)The infant had MCA and was re-evaluated at the age of 17 months and CSP studies were undertaken which revealed the translocation and the etiology. Fetal nuchal edema, oligohydramnios, and bilateral enlargement of the renal pelvis was noticed during ultrasound examination. Karyotyping on amniotic fluid cells ''revealed a structural anomaly of the short arm of chromosome 9''.Aberration: Simple translocationChromosomal Aneuploidy: 7p+;9p-
- Cai T, Yu P, Tagle D A, Xia J.: Duplication of 7p21.2->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome. AJMG 86:305-311, 1999. [PubMed: 10494083]Mother=46,XX,t(7;21)(p21.2q22.3).,Propositus=46,XY,der(21)t(7;21)(21pter->21q22.3::7p21.2->7pter)mat.The propositus was studied at age of one year because of mental and physical retardation, a large anterior fontanelle, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. At years of age, he had no intelligible speech and was able to say only a single word.Aberration: Reciprocal translocationChromosomal Aneuploidy: 7p+;21q-
- Franz H B G, Schliephacke M, Niemann G, Mielke G, Backsch C.: De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.2->22.1). Clin. Genet. 30:426-429, 1996. [PubMed: 9007337]46,XY,dir dup(7)(p21.2->p22.1)de novoThe boy was ascertained because of supravalvular pulmonary stenosis, atrial septum defect and mental retardation.Aberration: Direct duplicationChromosomal Aneuploidy: 7p+Negative band
- Johnson D, Horsley S W, Moloney D M, Oldridge M, Twigg S R F, Walsh S, Barrow M, Njolstad P R, Kunz J, Ashworth G J, Wall S A, Kearney L, Wilkie A O M.: A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. AJHG 63:1282-1293, 1998. [PMC free article: PMC1377539] [PubMed: 9792856]
Reardon W, McManus S P, Summers D, Winter R M: Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. AJMG 47:633-636, 1993. [PubMed: 8266988]
Rose C S P, King A A J, Summers D, Palmer R, Yang S, Wilkie A O M, Reardon W, Malcolm S, Winter R M.: Localization of the genetic locus for Saethre-Chotzen syndrome to a 6cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum. Mol. Genet. 3:1405-1408, 1994. [PubMed: 7987323]
Wilkie A O M, Yang S P, Summers D, Poole M D, Reardon W, Winter R M.: Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J. Med. Genet. 32:174-180, 1995. [PMC free article: PMC1050312] [PubMed: 7783164]Case 1:46,XY,t(7;10)(p21.2;q21.2)-father.&"46,XX,der(7)der(10)t(7;10)(p21.2;q21.2)pat."Both the patient and her father had signs of the syndrome including acrocephalosyndactyly.Case 2 (Family 1 in 1995 paper):46,XX,der t(7;18)(p21.2;q23)pat;Case 3 (Family 3 in 1995 paper):46,XX,t(5;7)(p15.3;p21.2).Case 4 (Family 2 in 1995 paper):46,XX,der t(2;7)(q21.1;p21.2)pat.Aberration: Simple translocationMIM#: 101400Index Terms: Acrocephalosyndactyl(y)(ia),Saethre-Chotzen syndromeNegative band
- 07p212 - Chromosomal Variation in Man07p212 - Chromosomal Variation in Man
- 04q320 - Chromosomal Variation in Man04q320 - Chromosomal Variation in Man
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