Multiple Congenital Anomalies Associated with a Ring 3 Chromosome and Translocated 3/X Chromosome

Mukerjee, Debdas; Burdette, Walter J.

doi:10.1038/212153a0

Cited by 32 publications

(17 citation statements)

References 19 publications

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“…Three different autoradiographic patterns suggestive of variable replication were observed in the nine cases. In four instances, the entire Xt was late replicating [15][16][17][18]. In three cases, the Xt was late replicating for the X-chromosomal segment only, while the translocated autosomal portion was not late replicating ( [19, 20]; patient no.…”

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confidence: 99%

“…2). In contrast, those cases in which the entire Xt was late replicating, including the autosomal segment, demonstrate varying degrees of gonadal dysgenesis but not obvious congenital malformations [15][16][17][18]. Since the entire Xt was inactivated, the extra chromatin material could not be expressed; but the gonadal dysgenesis may occur due to small X-chromosome deletions occurring in the translocation process.…”

mentioning

confidence: 99%

“…Since the entire Xt was inactivated, the extra chromatin material could not be expressed; but the gonadal dysgenesis may occur due to small X-chromosome deletions occurring in the translocation process. The case of Mukherjee and Burdette [18], which does exhibit multiple congenital anomalies, may be an exception due to the concomitant existence of a ring chromosome no. 3 in this patient.…”

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confidence: 99%

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Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Cohen

Lin

Sybert

et al. 1973

Obstetrical & Gynecological Survey

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confidence: 99%

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Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Cohen

Lin

Sybert

et al. 1973

Obstetrical & Gynecological Survey

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“…Kitatani et al [1984]: 46,XX,r(3)(p26q29); Lak = Lakshminarayana and Nallasivam [1990]: 46,XY,r(3); McK = McKinley et al [1991]: 46,XX,r(3)(p26.2q29); Muk = Mukerjee and Burdette [1966]: 46,XX,r(3); Nar = Narahara et al [1990]: 46,XX,r(p26.1q29); Pic = Picciano et al [1972]: 46,XY/46,XY,r(3); Tey = Teyssier et al [1991]: 46,XX,r(3)(p26q29)/46,XX; Wil = Wilson et al [1982]: 46,XY,r(3)(p26q29); Wit = Witkowski et al [1978]: 46,XY,r(3). + = present; -= absent; gap = not studied.…”

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confidence: 99%

Clinical, Cytogenetic and Molecular Study in a Case of r(3) with 3p Deletion and Review of the Literature

Guilherme

Bragagnolo²,

Pellegrino³

et al. 2011

Cytogenet Genome Res

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Ring chromosome 3 is a rare abnormality with only 10 patients described in the literature. We report a patient with r(3) and ∼6-Mb distal 3p deletion. Single nucleotide polymorphism array, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization techniques revealed that the ring was formed by a break in 3p26.1 and fusion with the subtelomeric region of 3q. The patient presents delayed psychomotor development, growth failure, minor anomalies and other features similar to patients with 3p monosomy. The analysis of 300 metaphase cells using G-banding and fluorescence in situ hybridization with centromeric probe revealed ring instability resulting in cells with secondary aberrations and with ring loss that could also be related to some phenotypic characteristics such as growth delay. This is the first patient with r(3) studied using molecular techniques that determined the exact breakpoints in order to establish a better karyotype-phenotype correlation.

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“…Bislang wurden neun verschiedene derartige Translokationen beobachtet, die sich unterschiedlich auf das Inaktivierungsverhalten sowohl der X-Chro mosomen wie auch des beteiligten autosomalen Materials auswirken (R ussell und Montgomery, 1969). Beim Menschen sind hingegen erst fünf Fälle bekannt, bei denen eine X-Autosomentranslokation aufgrund cytogenetischer Daten als weitgehend gesichert (M ukerjee und Burdette, 1966;G erman, 1967; Neuhäuser und Back, 1968) oder doch als recht wahrscheinlich (Mann et al, 1965;Böhm, 1970) …”

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Autoradiographic studies on an X-autosomal translocation in man: 45, X,15–, tan(15qXq+)+

Engel¹,

Vogel²,

Reinwein³

1971

Cytogenet Genome Res

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In a female infant exhibiting cleft palate, hydrocephalus communicans, vitium cordis congenitum, and other anomalies, chromosome analysis revealed a C/D translocation. According to its replication pattern, the translocation chromosome comprised almost a whole X and the long arm of a chromosome 15. In accordance with the Lyon-hypothesis, in a number of the cells the translocated X, X_t, or the normal X, X_n, was the late-replicating chromosome. In a few cells both X_t and X_n were late labeled, which was interpreted as perhaps the result of somatic segregation. In some of the cells showing a late-replicating X_t, the autosomal segment, which is normally early replicating, was labeled; this observation was interpreted as a position effect. The genetic material lost comprised the product of the reciprocal translocation, consisting of the centromeric region of chromosome 15 and the telomeric region of the long arm of the X. The severe clinical anomalies of the patient were ascribed to the inactivation of the translocated autosomal segment observed in a part of the examined cells.

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Multiple Congenital Anomalies Associated with a Ring 3 Chromosome and Translocated 3/X Chromosome

Cited by 32 publications

References 19 publications

Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Clinical, Cytogenetic and Molecular Study in a Case of r(3) with 3p Deletion and Review of the Literature

Autoradiographic studies on an X-autosomal translocation in man: 45, X,15–, tan(15qXq+)+

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