Familial 'partial 9p' trisomy: six cases and four carriers in three generations.

Centerwall, Willard R.; Miller, Karen; Reeves, Lucy

doi:10.1136/jmg.13.1.57

Cited by 34 publications

(17 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Clinical findings of partial trisomy 9p include growth and mental retardation, ear anomalies, hypertelorism, prominent or globular nose, downturned corners of the mouth, and hand-foot anomalies [Centerwall et al, 1976;Sutherland et al, 1976;Young et al, 1982;Wilson et al, 1985;Smart et al, 1988]. According to Wilson et al [1985], the spectrum of clinical severity in trisomy 9p roughly correlates with the extent of trisomic chromosome material.…”

Section: Introductionmentioning

confidence: 93%

See 1 more Smart Citation

Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow‐up

Littooij¹,

Hochstenbach²,

Sinke³

et al. 2002

Am. J. Med. Genet.

View full text Add to dashboard Cite

This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow-up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG-banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.

show abstract

Section: Introductionmentioning

confidence: 93%

“…In 12 of these the mother was the carrier [Short et al, 1972;Centerwall et al, 1976;Miller et al, 1979;Angle et al, 1999;Lemire and Cardwell, 1999].…”

Section: Introductionmentioning

confidence: 99%

Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow‐up

Littooij¹,

Hochstenbach²,

Sinke³

et al. 2002

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…This result suggested a lack of CENP-B binding at the inv dup(20p) centromere and was consistent with our failure to detect ␣-satellite sequences on this chromosome (discussed below). Dup (20p) or trisomy 20p is a relatively rare phenomenon, usually arising as a result of a translocation event [Centerwell and Francke, 1977;Grammatico et al, 1992;LeChien et al, 1994;Zummel et al, 1989]. We have identified a patient with trisomy 20p (karyotype 47,XX, del(20)(qter→p11.2),+inv dup(20p)(pter→ p11.2::p11.2→pter) with manifestations of the syndrome.…”

Section: Detection Of Centromere Proteinsmentioning

confidence: 83%

Trisomy 20p resulting from inverted duplication and neocentromere formation

et al. 1999

View full text Add to dashboard Cite

Normal human centromeres contain large tandem arrays of alpha-satellite DNA of varying composition and complexity. However, a new class of mitotically stable marker chromosomes which contain neocentromeres formed from genomic regions previously devoid of centromere activity was described recently. These neocentromeres are fully functional yet lack the repeat sequences traditionally associated with normal centromere function. We report here a supernumerary marker chromosome derived from the short arm of chromosome 20 in a patient with manifestations of dup(20p) syndrome. Detailed cytogenetic, FISH, and polymorphic microsatellite analyses indicate the de novo formation of the marker chromosome during meiosis or early postzygotically, involving an initial chromosome breakage at 20p11.2, followed by an inverted duplication of the distal 20p segment due to rejoining of sister chromatids and the activation of a neocentromere within 20p12. This inv dup(20p) marker chromosome lacks detectable centromeric alpha-satellite and pericentric satellite III sequences, or centromere protein CENP-B. Functional activity of the neocentromere is evidenced by its association with 5 different, functionally critical centromere proteins: CENP-A, CENP-C, CENP-E, CENP-F, and INCENP. Formation of a neocentromere on human chromosome 20 has not been reported previously and in this context represents a new mechanism for the origin of dup(20p) syndrome.

show abstract

“…9 was reported on 2 cases in 9q1 (Weber et al 1975 ;Tanaka et al 1977), on 5 cases in 9g11 (Rethore et al 1973 ;Fuj ita et al 1976 ;Gustavson and Wahlstrom 1977;Archidiacono et al 1978;Habedank and Faust 1978), on 10 cases in 9g12 (Rethore et al 1973;Fuj ita et al 1974;Balicek et al 1975;Stoll et al 1975;Abe et al 1976;Faed et al 1976;Kaosaar et al 1976;Hernandez et al 1979;Herva and Koivisto 1979;Di Cesare 1980), on 13 cases in 9813 (Turleau et al 1974 ;Mulcahy and Jenkyn 1975;Penchaszadeh and Coco :1975;Schinzel et al 1975;StengelRutkowski 1976;Subrt et al 1976;Tenconi 1976;Wyandt et a?. 1976;Gripenberg et al 1977;:Lin et al 1977;Preto et al 1977), on 5 cases in 9g21 (Rott et al 1971;Rethore et al 1974;Mason et al 1975;Chiyo et al 1976;Baccichetti et al 1979), on 6 cases in 9822 (Schwanitz et al 1974;Centerwall et al 1975;Mulcahy and Jenkyn 1975;Centerwall et al 1976;Fuj ita et al 1976;Neu et al 1979), on 1 case in 9824 (Di Cesare et al 1980), on 1 case in 9831 …”

Section: No 1]mentioning

confidence: 99%